Canonical Allele Identifier: CA363326006

Gene: HLA-C

Linked Data

• gnomAD v4: 6-31271222-C-T
• COSMIC: COSM4994665 ; COSM4994666 ; COSM4994667
• MyVariant Identifiers: chr6:g.31238999C>T (hg19) ; chr6:g.31271222C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271222C>T , CM000668.2:g.31271222C>T	GRCh38
NC_000006.11:g.31238999C>T , CM000668.1:g.31238999C>T	GRCh37
NC_000006.10:g.31346978C>T	NCBI36
NG_029422.2:g.5910G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.470G>A MANE Select	ENSP00000365402.5:p.Trp157Ter
ENST00000376228.9:c.470G>A	ENSP00000365402.5:p.Trp157Ter
ENST00000376237.8:c.*57G>A	ENSP00000365412.4:n.*57G>A
ENST00000383329.7:c.470G>A	ENSP00000372819.3:p.Trp157Ter
ENST00000415537.1:c.468G>A
ENST00000484378.1:n.739G>A
ENST00000487245.5:n.829G>A
ENST00000495835.1:n.659G>A
NM_002117.5:c.470G>A	NP_002108.4:p.Trp157Ter
NM_002117.6:c.470G>A MANE Select	NP_002108.4:p.Trp157Ter