Canonical Allele Identifier: CA3710357
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1050106
gnomAD v2: 6-31237771-G-A
gnomAD v3: 6-31269994-G-A
gnomAD v4: 6-31269994-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269994G>A , CM000668.2:g.31269994G>A GRCh38
NC_000006.11:g.31237771G>A , CM000668.1:g.31237771G>A GRCh37
NC_000006.10:g.31345750G>A NCBI36
NG_029422.2:g.7138C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.987C>T MANE Select ENSP00000365402.5:p.Thr329=
ENST00000376228.9:c.987C>T ENSP00000365402.5:p.Thr329=
ENST00000376237.8:c.*574C>T ENSP00000365412.4:n.*574C>T
ENST00000383329.7:c.987C>T ENSP00000372819.3:p.Thr329=
ENST00000470363.5:n.305C>T
ENST00000487245.5:n.1346C>T
NM_002117.5:c.987C>T NP_002108.4:p.Thr329=
NM_002117.6:c.987C>T MANE Select NP_002108.4:p.Thr329=