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SNV:6-31269992-G-C (GRCh38)
Dataset
- gnomAD v4.1.0
- GRCh38
- gnomAD v4.1.0807,162 samples
- gnomAD v4.1.0 (non-UKB)314,392 samples
- gnomAD v3.1.276,156 samples
- gnomAD v3.1.2 (non-cancer)74,023 samples
- gnomAD v3.1.2 (non-neuro)67,442 samples
- gnomAD v3.1.2 (non-v2)57,344 samples
- gnomAD v3.1.2 (non-TOPMed)40,433 samples
- gnomAD v3.1.2 (controls/biobanks)16,465 samples
- GRCh37
- gnomAD v2.1.1141,456 samples
- gnomAD v2.1.1 (non-TOPMed)135,743 samples
- gnomAD v2.1.1 (non-cancer)134,187 samples
- gnomAD v2.1.1 (non-neuro)114,704 samples
- gnomAD v2.1.1 (controls)60,146 samples
| Exomes | Genomes | Total | |
|---|---|---|---|
| Filters | AC0AS VSQR | AC0AS VSQR | |
| Allele Count | 0 | 0 | 0 |
| Allele Number | 769646 | 59718 * | 829364 * |
| Allele Frequency | 0.000 | 0.000 | 0.000 |
| Grpmax Filtering AF (95% confidence) | — | — | — |
| Number of homozygotes | 0 | 0 | 0 |
Warning This variant is covered in fewer than 50% of individuals in gnomAD v4.1.0 genomes. This may indicate a low-quality site.
External Resources
Feedback
Report an issue with this variantGenetic Ancestry Group Frequencies
- gnomAD
- HGDP
- 1KG
- Local Ancestry
| 0 | 23522 | 0 | 0.000 | ||
| 0 | 24148 | 0 | 0.000 | ||
| 0 | 7364 | 0 | 0.000 | ||
| 0 | 12932 | 0 | 0.000 | ||
| 0 | 30450 | 0 | 0.000 | ||
| 0 | 2054 | 0 | 0.000 | ||
| 0 | 659652 | 0 | 0.000 | ||
| 0 | 478 | 0 | 0.000 | ||
| 0 | 37836 | 0 | 0.000 | ||
| 0 | 30928 | 0 | 0.000 | ||
| XX | 0 | 421390 | 0 | 0.000 | |
| XY | 0 | 407974 | 0 | 0.000 | |
| Total | 0 | 829364 | 0 | 0.000 | |
Include:
Related Variants
Other Alternate Alleles
This variant is multiallelic. Other alternate alleles are:
Nearby Variants
Ensembl Variant Effect Predictor
This variant falls on 5 transcripts in 1 gene.
Note The gene symbols shown below are provided by VEP and may differ from the symbol shown on gene pages.
missense
HLA-C
- ENST00000376228.10Ensembl canonical transcript for HLA-C
- HGVSp
- p.Ala330Gly
- Domains
- PTHR16675 (PANTHER)
- ENST00000383329.7
- HGVSp
- p.Ala330Gly
- Domains
- PTHR16675 (PANTHER)
- ENST00000376228.10
3' UTR
HLA-C
- ENST00000376237.8
- HGVSc
- c.*576C>G
- ENST00000376237.8
non coding transcript exon
HLA-C
- ENST00000470363.5
- HGVSc
- n.307C>G
- ENST00000487245.5
- HGVSc
- n.1348C>G
- ENST00000470363.5
In Silico Predictors
- CADD: 7.78
- REVEL: 0.0780
- SpliceAI: 0.640
- Pangolin: 0.310
- phyloP: -0.327
- PolyPhen (max): 0.0140
Genomic Constraint of Surrounding 1kb Region
This variant does not have non coding constraint data for the surrounding region.Age Distribution
- Exome
- Genome
- Variant carriers
- All individuals
Genotype Quality Metrics
- Genotype quality
- Depth
- Allele balance for heterozygotes
- Exome
- Genome
- Variant carriers
- All individuals
Site Quality Metrics
- Metric distribution
- All metric values
- Exome
- Genome
Value: 3.309e+6 (exome samples), 5.175e+5 (genome samples)
Site quality approximation for all variants with 0 <= AF < 0.00005.
Note: These are site-level quality metrics, they may be unpredictable for multi-allelic sites.
Read Data
Always load read data