Canonical Allele Identifier: CA823860762
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1347061331
gnomAD v3: 6-31268994-G-A
gnomAD v4: 6-31268994-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31268994G>A , CM000668.2:g.31268994G>A GRCh38
NC_000006.11:g.31236771G>A , CM000668.1:g.31236771G>A GRCh37
NC_000006.10:g.31344750G>A NCBI36
NG_029422.2:g.8138C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.*175C>T MANE Select ENSP00000365402.5:n.*175C>T
ENST00000376228.9:c.*175C>T ENSP00000365402.5:n.*175C>T
ENST00000376237.8:c.*863C>T ENSP00000365412.4:n.*863C>T
ENST00000383329.7:c.*175C>T ENSP00000372819.3:n.*175C>T
ENST00000466892.5:n.509C>T
ENST00000470363.5:n.1034C>T
ENST00000487245.5:n.1635C>T
NM_002117.5:c.*175C>T NP_002108.4:n.*175C>T
NM_002117.6:c.*175C>T MANE Select NP_002108.4:n.*175C>T