Canonical Allele Identifier: CA363322693

Gene: HLA-C

Linked Data

• gnomAD v3: 6-31270452-A-C
• gnomAD v4: 6-31270452-A-C
• MyVariant Identifiers: chr6:g.31238229A>C (hg19) ; chr6:g.31270452A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31270452A>C , CM000668.2:g.31270452A>C	GRCh38
NC_000006.11:g.31238229A>C , CM000668.1:g.31238229A>C	GRCh37
NC_000006.10:g.31346208A>C	NCBI36
NG_029422.2:g.6680T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.653T>G MANE Select	ENSP00000365402.5:p.Leu218Arg
ENST00000376228.9:c.653T>G	ENSP00000365402.5:p.Leu218Arg
ENST00000376237.8:c.*240T>G	ENSP00000365412.4:n.*240T>G
ENST00000383329.7:c.653T>G	ENSP00000372819.3:p.Leu218Arg
ENST00000415537.1:c.651T>G
ENST00000487245.5:n.1012T>G
ENST00000495835.1:n.842T>G
NM_002117.5:c.653T>G	NP_002108.4:p.Leu218Arg
NM_002117.6:c.653T>G MANE Select	NP_002108.4:p.Leu218Arg