Canonical Allele Identifier: CA435806661
Gene: TF HGNC NCBI

Linked Data

ClinVar Variation Id: 2974382
ClinVar RCV Id: RCV003836020
MyVariant Identifiers: chr3:g.133475811C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133756967C>A , CM000665.2:g.133756967C>A GRCh38
NC_000003.11:g.133475811C>A , CM000665.1:g.133475811C>A GRCh37
NC_000003.10:g.134958501C>A NCBI36
NG_013080.1:g.15835C>A
NG_013080.2:g.99970C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.828C>A MANE Select ENSP00000385834.3:p.Gly276=
ENST00000402696.7:c.828C>A ENSP00000385834.3:p.Gly276=
ENST00000485977.1:c.193C>A ENSP00000418716.1:p.Arg65=
NM_001063.3:c.828C>A NP_001054.1:p.Gly276=
XM_011513100.1:c.828C>A XP_011511402.1:p.Gly276=
NM_001354703.1:c.696C>A NP_001341632.1:p.Gly232=
NM_001354704.1:c.447C>A NP_001341633.1:p.Gly149=
NM_001063.4:c.828C>A MANE Select NP_001054.2:p.Gly276=
NM_001354703.2:c.696C>A NP_001341632.2:p.Gly232=
NM_001354704.2:c.447C>A NP_001341633.2:p.Gly149=