Canonical Allele Identifier: CA136861832
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs984616135
gnomAD v3: 6-31269371-G-A
gnomAD v4: 6-31269371-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269371G>A , CM000668.2:g.31269371G>A GRCh38
NC_000006.11:g.31237148G>A , CM000668.1:g.31237148G>A GRCh37
NC_000006.10:g.31345127G>A NCBI36
NG_029422.2:g.7761C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.1063C>T MANE Select ENSP00000365402.5:p.Gln355Ter
ENST00000376228.9:c.1063C>T ENSP00000365402.5:p.Gln355Ter
ENST00000376237.8:c.*650C>T ENSP00000365412.4:n.*650C>T
ENST00000383329.7:c.1081C>T ENSP00000372819.3:p.Gln361Ter
ENST00000466892.5:n.296C>T
ENST00000470363.5:n.821C>T
ENST00000487245.5:n.1422C>T
NM_002117.5:c.1063C>T NP_002108.4:p.Gln355Ter
NM_002117.6:c.1063C>T MANE Select NP_002108.4:p.Gln355Ter