Canonical Allele Identifier: CA3710525

Gene: HLA-C

Linked Data

• dbSNP Id: rs750087008
• ExAC: 6:31238012 C / A
• MyVariant Identifiers: chr6:g.31238012C>A (hg19) ; chr6:g.31270235C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31270235C>A , CM000668.2:g.31270235C>A	GRCh38
NC_000006.11:g.31238012C>A , CM000668.1:g.31238012C>A	GRCh37
NC_000006.10:g.31345991C>A	NCBI36
NG_029422.2:g.6897G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.870G>T MANE Select	ENSP00000365402.5:p.Leu290=
ENST00000376228.9:c.870G>T	ENSP00000365402.5:p.Leu290=
ENST00000376237.8:c.*457G>T	ENSP00000365412.4:n.*457G>T
ENST00000383329.7:c.870G>T	ENSP00000372819.3:p.Leu290=
ENST00000415537.1:c.761G>T
ENST00000470363.5:n.188G>T
ENST00000487245.5:n.1229G>T
ENST00000495835.1:n.1059G>T
NM_002117.5:c.870G>T	NP_002108.4:p.Leu290=
NM_002117.6:c.870G>T MANE Select	NP_002108.4:p.Leu290=