Canonical Allele Identifier: CA363321847

Gene: HLA-C

Linked Data

• gnomAD v3: 6-31270355-C-G
• gnomAD v4: 6-31270355-C-G
• MyVariant Identifiers: chr6:g.31238132C>G (hg19) ; chr6:g.31270355C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31270355C>G , CM000668.2:g.31270355C>G	GRCh38
NC_000006.11:g.31238132C>G , CM000668.1:g.31238132C>G	GRCh37
NC_000006.10:g.31346111C>G	NCBI36
NG_029422.2:g.6777G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376228.10:c.750G>C MANE Select	ENSP00000365402.5:p.Gln250His
ENST00000376228.9:c.750G>C	ENSP00000365402.5:p.Gln250His
ENST00000376237.8:c.*337G>C	ENSP00000365412.4:n.*337G>C
ENST00000383329.7:c.750G>C	ENSP00000372819.3:p.Gln250His
ENST00000415537.1:c.665-24G>C
ENST00000470363.5:n.68G>C
ENST00000487245.5:n.1109G>C
ENST00000495835.1:n.939G>C
NM_002117.5:c.750G>C	NP_002108.4:p.Gln250His
NM_002117.6:c.750G>C MANE Select	NP_002108.4:p.Gln250His