Canonical Allele Identifier: CA136860972
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1130554
gnomAD v2: 6-31236646-A-T
gnomAD v3: 6-31268869-A-T
gnomAD v4: 6-31268869-A-T
MyVariant Identifiers: chr6:g.31236646A>T (hg19) chr6:g.31268869A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31268869A>T , CM000668.2:g.31268869A>T GRCh38
NC_000006.11:g.31236646A>T , CM000668.1:g.31236646A>T GRCh37
NC_000006.10:g.31344625A>T NCBI36
NG_029422.2:g.8263T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.*300T>A MANE Select ENSP00000365402.5:n.*300T>A
ENST00000376228.9:c.*300T>A ENSP00000365402.5:n.*300T>A
ENST00000376237.8:c.*988T>A ENSP00000365412.4:n.*988T>A
ENST00000383329.7:c.*300T>A ENSP00000372819.3:n.*300T>A
ENST00000466892.5:n.634T>A
ENST00000470363.5:n.1159T>A
ENST00000487245.5:n.1760T>A
NM_002117.5:c.*300T>A NP_002108.4:n.*300T>A
NM_002117.6:c.*300T>A MANE Select NP_002108.4:n.*300T>A
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