Canonical Allele Identifier: CA363319462

Gene: HLA-C

Linked Data

• gnomAD v3: 6-31269517-C-A
• gnomAD v4: 6-31269517-C-A
• MyVariant Identifiers: chr6:g.31237294C>A (hg19) ; chr6:g.31269517C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31269517C>A , CM000668.2:g.31269517C>A	GRCh38
NC_000006.11:g.31237294C>A , CM000668.1:g.31237294C>A	GRCh37
NC_000006.10:g.31345273C>A	NCBI36
NG_029422.2:g.7615G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.1024G>T MANE Select	ENSP00000365402.5:p.Gly342Ter
ENST00000376228.9:c.1024G>T	ENSP00000365402.5:p.Gly342Ter
ENST00000376237.8:c.*611G>T	ENSP00000365412.4:n.*611G>T
ENST00000383329.7:c.1042G>T	ENSP00000372819.3:p.Gly348Ter
ENST00000466892.5:n.150G>T
ENST00000470363.5:n.782G>T
ENST00000487245.5:n.1383G>T
NM_002117.5:c.1024G>T	NP_002108.4:p.Gly342Ter
NM_002117.6:c.1024G>T MANE Select	NP_002108.4:p.Gly342Ter