Canonical Allele Identifier: CA823860721
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1287909929
gnomAD v3: 6-31268884-T-G
gnomAD v4: 6-31268884-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31268884T>G , CM000668.2:g.31268884T>G GRCh38
NC_000006.11:g.31236661T>G , CM000668.1:g.31236661T>G GRCh37
NC_000006.10:g.31344640T>G NCBI36
NG_029422.2:g.8248A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.*285A>C MANE Select ENSP00000365402.5:n.*285A>C
ENST00000376228.9:c.*285A>C ENSP00000365402.5:n.*285A>C
ENST00000376237.8:c.*973A>C ENSP00000365412.4:n.*973A>C
ENST00000383329.7:c.*285A>C ENSP00000372819.3:n.*285A>C
ENST00000466892.5:n.619A>C
ENST00000470363.5:n.1144A>C
ENST00000487245.5:n.1745A>C
NM_002117.5:c.*285A>C NP_002108.4:n.*285A>C
NM_002117.6:c.*285A>C MANE Select NP_002108.4:n.*285A>C