Canonical Allele Identifier: CA136867218
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs41550023
gnomAD v2: 6-31239023-G-A
gnomAD v4: 6-31271246-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271246G>A , CM000668.2:g.31271246G>A GRCh38
NC_000006.11:g.31239023G>A , CM000668.1:g.31239023G>A GRCh37
NC_000006.10:g.31347002G>A NCBI36
NG_029422.2:g.5886C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.446C>T MANE Select ENSP00000365402.5:p.Ala149Val
ENST00000376228.9:c.446C>T ENSP00000365402.5:p.Ala149Val
ENST00000376237.8:c.*33C>T ENSP00000365412.4:n.*33C>T
ENST00000383329.7:c.446C>T ENSP00000372819.3:p.Ala149Val
ENST00000415537.1:c.444C>T
ENST00000484378.1:n.715C>T
ENST00000487245.5:n.805C>T
ENST00000495835.1:n.635C>T
NM_002117.5:c.446C>T NP_002108.4:p.Ala149Val
NM_002117.6:c.446C>T MANE Select NP_002108.4:p.Ala149Val