Canonical Allele Identifier: CA363319531

Gene: HLA-C

Linked Data

• gnomAD v4: 6-31269964-A-G
• COSMIC: COSM1642995 ; COSM1642996 ; COSM4752104
• MyVariant Identifiers: chr6:g.31237741A>G (hg19) ; chr6:g.31269964A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31269964A>G , CM000668.2:g.31269964A>G	GRCh38
NC_000006.11:g.31237741A>G , CM000668.1:g.31237741A>G	GRCh37
NC_000006.10:g.31345720A>G	NCBI36
NG_029422.2:g.7168T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376228.10:c.1015+2T>C MANE Select	ENSP00000365402.5:n.1015+2T>C
ENST00000376228.9:c.1015+2T>C	ENSP00000365402.5:n.1015+2T>C
ENST00000376237.8:c.*602+2T>C	ENSP00000365412.4:n.*602+2T>C
ENST00000383329.7:c.1015+2T>C	ENSP00000372819.3:n.1015+2T>C
ENST00000470363.5:n.335T>C
ENST00000487245.5:n.1374+2T>C
NM_002117.5:c.1015+2T>C	NP_002108.4:n.1015+2T>C
NM_002117.6:c.1015+2T>C MANE Select	NP_002108.4:n.1015+2T>C