Canonical Allele Identifier: CA136867449

Gene: HLA-C

Linked Data

• dbSNP Id: rs281860469
• gnomAD v3: 6-31271276-T-C
• gnomAD v4: 6-31271276-T-C
• MyVariant Identifiers: chr6:g.31239053T>C (hg19) ; chr6:g.31271276T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271276T>C , CM000668.2:g.31271276T>C	GRCh38
NC_000006.11:g.31239053T>C , CM000668.1:g.31239053T>C	GRCh37
NC_000006.10:g.31347032T>C	NCBI36
NG_029422.2:g.5856A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.416A>G MANE Select	ENSP00000365402.5:p.Gln139Arg
ENST00000376228.9:c.416A>G	ENSP00000365402.5:p.Gln139Arg
ENST00000376237.8:c.*3A>G	ENSP00000365412.4:n.*3A>G
ENST00000383329.7:c.416A>G	ENSP00000372819.3:p.Gln139Arg
ENST00000415537.1:c.414A>G
ENST00000484378.1:n.685A>G
ENST00000487245.5:n.775A>G
ENST00000495835.1:n.605A>G
NM_002117.5:c.416A>G	NP_002108.4:p.Gln139Arg
NM_002117.6:c.416A>G MANE Select	NP_002108.4:p.Gln139Arg