Canonical Allele Identifier: CA449790459
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1334471568
gnomAD v2: 6-31239019-C-T
gnomAD v4: 6-31271242-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271242C>T , CM000668.2:g.31271242C>T GRCh38
NC_000006.11:g.31239019C>T , CM000668.1:g.31239019C>T GRCh37
NC_000006.10:g.31346998C>T NCBI36
NG_029422.2:g.5890G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.450G>A MANE Select ENSP00000365402.5:p.Leu150=
ENST00000376228.9:c.450G>A ENSP00000365402.5:p.Leu150=
ENST00000376237.8:c.*37G>A ENSP00000365412.4:n.*37G>A
ENST00000383329.7:c.450G>A ENSP00000372819.3:p.Leu150=
ENST00000415537.1:c.448G>A
ENST00000484378.1:n.719G>A
ENST00000487245.5:n.809G>A
ENST00000495835.1:n.639G>A
NM_002117.5:c.450G>A NP_002108.4:p.Leu150=
NM_002117.6:c.450G>A MANE Select NP_002108.4:p.Leu150=