Canonical Allele Identifier: CA3710789
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1131118
gnomAD v2: 6-31239108-T-A
gnomAD v3: 6-31271331-T-A
gnomAD v4: 6-31271331-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271331T>A , CM000668.2:g.31271331T>A GRCh38
NC_000006.11:g.31239108T>A , CM000668.1:g.31239108T>A GRCh37
NC_000006.10:g.31347087T>A NCBI36
NG_029422.2:g.5801A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.361A>T MANE Select ENSP00000365402.5:p.Arg121Trp
ENST00000376228.9:c.361A>T ENSP00000365402.5:p.Arg121Trp
ENST00000376237.8:c.344A>T ENSP00000365412.4:p.Glu115Val
ENST00000383329.7:c.361A>T ENSP00000372819.3:p.Arg121Trp
ENST00000415537.1:c.359A>T
ENST00000484378.1:n.630A>T
ENST00000487245.5:n.720A>T
ENST00000495835.1:n.550A>T
NM_002117.5:c.361A>T NP_002108.4:p.Arg121Trp
NM_002117.6:c.361A>T MANE Select NP_002108.4:p.Arg121Trp