Canonical Allele Identifier: CA3710263
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs757448813
gnomAD v2: 6-31237136-C-A
gnomAD v3: 6-31269359-C-A
gnomAD v4: 6-31269359-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269359C>A , CM000668.2:g.31269359C>A GRCh38
NC_000006.11:g.31237136C>A , CM000668.1:g.31237136C>A GRCh37
NC_000006.10:g.31345115C>A NCBI36
NG_029422.2:g.7773G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.1075G>T MANE Select ENSP00000365402.5:p.Glu359Ter
ENST00000376228.9:c.1075G>T ENSP00000365402.5:p.Glu359Ter
ENST00000376237.8:c.*662G>T ENSP00000365412.4:n.*662G>T
ENST00000383329.7:c.1093G>T ENSP00000372819.3:p.Glu365Ter
ENST00000466892.5:n.308G>T
ENST00000470363.5:n.833G>T
ENST00000487245.5:n.1434G>T
NM_002117.5:c.1075G>T NP_002108.4:p.Glu359Ter
NM_002117.6:c.1075G>T MANE Select NP_002108.4:p.Glu359Ter