Canonical Allele Identifier: CA363327033

Gene: HLA-C

Linked Data

• gnomAD v4: 6-31271316-C-G
• COSMIC: COSM4855599 ; COSM4855600 ; COSM4855601
• MyVariant Identifiers: chr6:g.31239093C>G (hg19) ; chr6:g.31271316C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271316C>G , CM000668.2:g.31271316C>G	GRCh38
NC_000006.11:g.31239093C>G , CM000668.1:g.31239093C>G	GRCh37
NC_000006.10:g.31347072C>G	NCBI36
NG_029422.2:g.5816G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.376G>C MANE Select	ENSP00000365402.5:p.Asp126His
ENST00000376228.9:c.376G>C	ENSP00000365402.5:p.Asp126His
ENST00000376237.8:c.359G>C	ENSP00000365412.4:p.Arg120Pro
ENST00000383329.7:c.376G>C	ENSP00000372819.3:p.Asp126His
ENST00000415537.1:c.374G>C
ENST00000484378.1:n.645G>C
ENST00000487245.5:n.735G>C
ENST00000495835.1:n.565G>C
NM_002117.5:c.376G>C	NP_002108.4:p.Asp126His
NM_002117.6:c.376G>C MANE Select	NP_002108.4:p.Asp126His