Canonical Allele Identifier: CA449790028
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1329616280
gnomAD v2: 6-31237840-G-T
gnomAD v3: 6-31270063-G-T
gnomAD v4: 6-31270063-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270063G>T , CM000668.2:g.31270063G>T GRCh38
NC_000006.11:g.31237840G>T , CM000668.1:g.31237840G>T GRCh37
NC_000006.10:g.31345819G>T NCBI36
NG_029422.2:g.7069C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.918C>A MANE Select ENSP00000365402.5:p.Ile306=
ENST00000376228.9:c.918C>A ENSP00000365402.5:p.Ile306=
ENST00000376237.8:c.*505C>A ENSP00000365412.4:n.*505C>A
ENST00000383329.7:c.918C>A ENSP00000372819.3:p.Ile306=
ENST00000470363.5:n.236C>A
ENST00000487245.5:n.1277C>A
NM_002117.5:c.918C>A NP_002108.4:p.Ile306=
NM_002117.6:c.918C>A MANE Select NP_002108.4:p.Ile306=