Canonical Allele Identifier: CA3710370

Gene: HLA-C

Linked Data

• dbSNP Id: rs776358198
• ExAC: 6:31237801 A / G
• MyVariant Identifiers: chr6:g.31237801A>G (hg19) ; chr6:g.31270024A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31270024A>G , CM000668.2:g.31270024A>G	GRCh38
NC_000006.11:g.31237801A>G , CM000668.1:g.31237801A>G	GRCh37
NC_000006.10:g.31345780A>G	NCBI36
NG_029422.2:g.7108T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376228.10:c.957T>C MANE Select	ENSP00000365402.5:p.Val319=
ENST00000376228.9:c.957T>C	ENSP00000365402.5:p.Val319=
ENST00000376237.8:c.*544T>C	ENSP00000365412.4:n.*544T>C
ENST00000383329.7:c.957T>C	ENSP00000372819.3:p.Val319=
ENST00000470363.5:n.275T>C
ENST00000487245.5:n.1316T>C
NM_002117.5:c.957T>C	NP_002108.4:p.Val319=
NM_002117.6:c.957T>C MANE Select	NP_002108.4:p.Val319=