Canonical Allele Identifier: CA3710347
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs41560617
gnomAD v2: 6-31237761-A-G
gnomAD v3: 6-31269984-A-G
gnomAD v4: 6-31269984-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269984A>G , CM000668.2:g.31269984A>G GRCh38
NC_000006.11:g.31237761A>G , CM000668.1:g.31237761A>G GRCh37
NC_000006.10:g.31345740A>G NCBI36
NG_029422.2:g.7148T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.997T>C MANE Select ENSP00000365402.5:p.Cys333Arg
ENST00000376228.9:c.997T>C ENSP00000365402.5:p.Cys333Arg
ENST00000376237.8:c.*584T>C ENSP00000365412.4:n.*584T>C
ENST00000383329.7:c.997T>C ENSP00000372819.3:p.Cys333Arg
ENST00000470363.5:n.315T>C
ENST00000487245.5:n.1356T>C
NM_002117.5:c.997T>C NP_002108.4:p.Cys333Arg
NM_002117.6:c.997T>C MANE Select NP_002108.4:p.Cys333Arg