Canonical Allele Identifier: CA2594558024

Gene: HLA-C

Linked Data

• dbSNP Id: rs1269223914
• gnomAD v3: 6-31268814-C-A
• gnomAD v4: 6-31268814-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31268814C>A , CM000668.2:g.31268814C>A	GRCh38
NC_000006.11:g.31236591C>A , CM000668.1:g.31236591C>A	GRCh37
NC_000006.10:g.31344570C>A	NCBI36
NG_029422.2:g.8318G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000376228.10:c.*355G>T MANE Select	ENSP00000365402.5:n.*355G>T
ENST00000376228.9:c.*355G>T	ENSP00000365402.5:n.*355G>T
ENST00000376237.8:c.*1043G>T	ENSP00000365412.4:n.*1043G>T
ENST00000383329.7:c.*355G>T	ENSP00000372819.3:n.*355G>T
ENST00000466892.5:n.689G>T
ENST00000470363.5:n.1214G>T
ENST00000487245.5:n.1815G>T
NM_002117.5:c.*355G>T	NP_002108.4:n.*355G>T
NM_002117.6:c.*355G>T MANE Select	NP_002108.4:n.*355G>T