Canonical Allele Identifier: CA3710310
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs567530604
gnomAD v2: 6-31237312-G-A
gnomAD v4: 6-31269535-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269535G>A , CM000668.2:g.31269535G>A GRCh38
NC_000006.11:g.31237312G>A , CM000668.1:g.31237312G>A GRCh37
NC_000006.10:g.31345291G>A NCBI36
NG_029422.2:g.7597C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.1016-10C>T MANE Select ENSP00000365402.5:n.1016-10C>T
ENST00000376228.9:c.1016-10C>T ENSP00000365402.5:n.1016-10C>T
ENST00000376237.8:c.*603-10C>T ENSP00000365412.4:n.*603-10C>T
ENST00000383329.7:c.1024C>T ENSP00000372819.3:p.Leu342Phe
ENST00000466892.5:n.132C>T
ENST00000470363.5:n.764C>T
ENST00000487245.5:n.1375-10C>T
NM_002117.5:c.1016-10C>T NP_002108.4:n.1016-10C>T
NM_002117.6:c.1016-10C>T MANE Select NP_002108.4:n.1016-10C>T