Canonical Allele Identifier: CA136867840
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs281860457
gnomAD v3: 6-31271306-G-T
gnomAD v4: 6-31271306-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271306G>T , CM000668.2:g.31271306G>T GRCh38
NC_000006.11:g.31239083G>T , CM000668.1:g.31239083G>T GRCh37
NC_000006.10:g.31347062G>T NCBI36
NG_029422.2:g.5826C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.386C>A MANE Select ENSP00000365402.5:p.Pro129His
ENST00000376228.9:c.386C>A ENSP00000365402.5:p.Pro129His
ENST00000376237.8:c.369C>A ENSP00000365412.4:p.Ala123=
ENST00000383329.7:c.386C>A ENSP00000372819.3:p.Pro129His
ENST00000415537.1:c.384C>A
ENST00000484378.1:n.655C>A
ENST00000487245.5:n.745C>A
ENST00000495835.1:n.575C>A
NM_002117.5:c.386C>A NP_002108.4:p.Pro129His
NM_002117.6:c.386C>A MANE Select NP_002108.4:p.Pro129His