Canonical Allele Identifier: CA363319576
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1143551
gnomAD v4: 6-31269983-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269983C>A , CM000668.2:g.31269983C>A GRCh38
NC_000006.11:g.31237760C>A , CM000668.1:g.31237760C>A GRCh37
NC_000006.10:g.31345739C>A NCBI36
NG_029422.2:g.7149G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.998G>T MANE Select ENSP00000365402.5:p.Cys333Phe
ENST00000376228.9:c.998G>T ENSP00000365402.5:p.Cys333Phe
ENST00000376237.8:c.*585G>T ENSP00000365412.4:n.*585G>T
ENST00000383329.7:c.998G>T ENSP00000372819.3:p.Cys333Phe
ENST00000470363.5:n.316G>T
ENST00000487245.5:n.1357G>T
NM_002117.5:c.998G>T NP_002108.4:p.Cys333Phe
NM_002117.6:c.998G>T MANE Select NP_002108.4:p.Cys333Phe