Canonical Allele Identifier: CA136867273
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs281860478
gnomAD v3: 6-31271252-T-A
gnomAD v4: 6-31271252-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271252T>A , CM000668.2:g.31271252T>A GRCh38
NC_000006.11:g.31239029T>A , CM000668.1:g.31239029T>A GRCh37
NC_000006.10:g.31347008T>A NCBI36
NG_029422.2:g.5880A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.440A>T MANE Select ENSP00000365402.5:p.Tyr147Phe
ENST00000376228.9:c.440A>T ENSP00000365402.5:p.Tyr147Phe
ENST00000376237.8:c.*27A>T ENSP00000365412.4:n.*27A>T
ENST00000383329.7:c.440A>T ENSP00000372819.3:p.Tyr147Phe
ENST00000415537.1:c.438A>T
ENST00000484378.1:n.709A>T
ENST00000487245.5:n.799A>T
ENST00000495835.1:n.629A>T
NM_002117.5:c.440A>T NP_002108.4:p.Tyr147Phe
NM_002117.6:c.440A>T MANE Select NP_002108.4:p.Tyr147Phe