Canonical Allele Identifier: CA136867127
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs281860489
gnomAD v3: 6-31271228-C-T
gnomAD v4: 6-31271228-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271228C>T , CM000668.2:g.31271228C>T GRCh38
NC_000006.11:g.31239005C>T , CM000668.1:g.31239005C>T GRCh37
NC_000006.10:g.31346984C>T NCBI36
NG_029422.2:g.5904G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.464G>A MANE Select ENSP00000365402.5:p.Arg155His
ENST00000376228.9:c.464G>A ENSP00000365402.5:p.Arg155His
ENST00000376237.8:c.*51G>A ENSP00000365412.4:n.*51G>A
ENST00000383329.7:c.464G>A ENSP00000372819.3:p.Arg155His
ENST00000415537.1:c.462G>A
ENST00000484378.1:n.733G>A
ENST00000487245.5:n.823G>A
ENST00000495835.1:n.653G>A
NM_002117.5:c.464G>A NP_002108.4:p.Arg155His
NM_002117.6:c.464G>A MANE Select NP_002108.4:p.Arg155His