Canonical Allele Identifier: CA363319264

Gene: HLA-C

Linked Data

• gnomAD v4: 6-31269359-C-T
• COSMIC: COSM6173669 ; COSM6173670 ; COSM6173671
• MyVariant Identifiers: chr6:g.31237136C>T (hg19) ; chr6:g.31269359C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31269359C>T , CM000668.2:g.31269359C>T	GRCh38
NC_000006.11:g.31237136C>T , CM000668.1:g.31237136C>T	GRCh37
NC_000006.10:g.31345115C>T	NCBI36
NG_029422.2:g.7773G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.1075G>A MANE Select	ENSP00000365402.5:p.Glu359Lys
ENST00000376228.9:c.1075G>A	ENSP00000365402.5:p.Glu359Lys
ENST00000376237.8:c.*662G>A	ENSP00000365412.4:n.*662G>A
ENST00000383329.7:c.1093G>A	ENSP00000372819.3:p.Glu365Lys
ENST00000466892.5:n.308G>A
ENST00000470363.5:n.833G>A
ENST00000487245.5:n.1434G>A
NM_002117.5:c.1075G>A	NP_002108.4:p.Glu359Lys
NM_002117.6:c.1075G>A MANE Select	NP_002108.4:p.Glu359Lys