Canonical Allele Identifier: CA3710212
Gene: HLA-C HGNC NCBI
dbSNP:
1049709
gnomAD v2:
6:31236854 T / C
gnomAD v3:
6:31269077 T / C
gnomAD v4:
chr6-31269077-T-C
Joint Max Group AF 0.17031148 (NFE)
Genomes Max Group AF 0.15715758 (NFE)
Exomes Max Group AF 0.17229973 (NFE)
MyVariant.info:
GRCh38 chr6:g.31269077T>C
GRCh37 chr6:g.31236854T>C
Revel Score:
ENST00000396254 0.006
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269077T>C , CM000668.2:g.31269077T>C GRCh38
NC_000006.11:g.31236854T>C , CM000668.1:g.31236854T>C GRCh37
NC_000006.10:g.31344833T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.*92A>G MANE Select ENSP00000365402.5:n.*92A>G
ENST00000376228.9:c.*92A>G ENSP00000365402.5:n.*92A>G
ENST00000376237.8:c.*780A>G ENSP00000365412.4:n.*780A>G
ENST00000383329.7:c.*92A>G ENSP00000372819.3:n.*92A>G
ENST00000466892.5:n.426A>G
ENST00000470363.5:n.951A>G
ENST00000487245.5:n.1552A>G
NM_002117.5:c.*92A>G NP_002108.4:n.*92A>G
NM_002117.6:c.*92A>G MANE Select NP_002108.4:n.*92A>G
Search 100 bp 5'
Search 100 bp 3'