Canonical Allele Identifier: CA363319309
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31269369-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269369C>A , CM000668.2:g.31269369C>A GRCh38
NC_000006.11:g.31237146C>A , CM000668.1:g.31237146C>A GRCh37
NC_000006.10:g.31345125C>A NCBI36
NG_029422.2:g.7763G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.1065G>T MANE Select ENSP00000365402.5:p.Gln355His
ENST00000376228.9:c.1065G>T ENSP00000365402.5:p.Gln355His
ENST00000376237.8:c.*652G>T ENSP00000365412.4:n.*652G>T
ENST00000383329.7:c.1083G>T ENSP00000372819.3:p.Gln361His
ENST00000466892.5:n.298G>T
ENST00000470363.5:n.823G>T
ENST00000487245.5:n.1424G>T
NM_002117.5:c.1065G>T NP_002108.4:p.Gln355His
NM_002117.6:c.1065G>T MANE Select NP_002108.4:p.Gln355His