Canonical Allele Identifier: CA2625421
Gene: TF HGNC NCBI

Linked Data

ClinVar Variation Id: 2957723
ClinVar RCV Id: RCV003811386
dbSNP Id: rs142894328
COSMIC: COSM345418

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133775590C>T , CM000665.2:g.133775590C>T GRCh38
NC_000003.11:g.133494434C>T , CM000665.1:g.133494434C>T GRCh37
NC_000003.10:g.134977124C>T NCBI36
NG_013080.1:g.34458C>T
NG_013080.2:g.118593C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.1845C>T MANE Select ENSP00000385834.3:p.Cys615=
ENST00000402696.7:c.1845C>T ENSP00000385834.3:p.Cys615=
ENST00000461695.1:c.576C>T
ENST00000467842.1:n.2839C>T
NM_001063.3:c.1845C>T NP_001054.1:p.Cys615=
XM_011513100.1:c.1845C>T XP_011511402.1:p.Cys615=
NM_001354703.1:c.1713C>T NP_001341632.1:p.Cys571=
NM_001354704.1:c.1464C>T NP_001341633.1:p.Cys488=
NM_001063.4:c.1845C>T MANE Select NP_001054.2:p.Cys615=
NM_001354703.2:c.1713C>T NP_001341632.2:p.Cys571=
NM_001354704.2:c.1464C>T NP_001341633.2:p.Cys488=