Canonical Allele Identifier: CA449790249

Gene: HLA-C

Linked Data

• dbSNP Id: rs779521311
• gnomAD v2: 6-31238015-C-T
• gnomAD v4: 6-31270238-C-T
• MyVariant Identifiers: chr6:g.31238015C>T (hg19) ; chr6:g.31270238C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31270238C>T , CM000668.2:g.31270238C>T	GRCh38
NC_000006.11:g.31238015C>T , CM000668.1:g.31238015C>T	GRCh37
NC_000006.10:g.31345994C>T	NCBI36
NG_029422.2:g.6894G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.867G>A MANE Select	ENSP00000365402.5:p.Gly289=
ENST00000376228.9:c.867G>A	ENSP00000365402.5:p.Gly289=
ENST00000376237.8:c.*454G>A	ENSP00000365412.4:n.*454G>A
ENST00000383329.7:c.867G>A	ENSP00000372819.3:p.Gly289=
ENST00000415537.1:c.758G>A
ENST00000470363.5:n.185G>A
ENST00000487245.5:n.1226G>A
ENST00000495835.1:n.1056G>A
NM_002117.5:c.867G>A	NP_002108.4:p.Gly289=
NM_002117.6:c.867G>A MANE Select	NP_002108.4:p.Gly289=