Canonical Allele Identifier: CA435815874
Gene: TF HGNC NCBI

Linked Data

ClinVar Variation Id: 2836648
ClinVar RCV Id: RCV003690191
MyVariant Identifiers: chr3:g.133494422T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133775578T>C , CM000665.2:g.133775578T>C GRCh38
NC_000003.11:g.133494422T>C , CM000665.1:g.133494422T>C GRCh37
NC_000003.10:g.134977112T>C NCBI36
NG_013080.1:g.34446T>C
NG_013080.2:g.118581T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.1833T>C MANE Select ENSP00000385834.3:p.Asp611=
ENST00000402696.7:c.1833T>C ENSP00000385834.3:p.Asp611=
ENST00000461695.1:c.564T>C
ENST00000467842.1:n.2827T>C
NM_001063.3:c.1833T>C NP_001054.1:p.Asp611=
XM_011513100.1:c.1833T>C XP_011511402.1:p.Asp611=
NM_001354703.1:c.1701T>C NP_001341632.1:p.Asp567=
NM_001354704.1:c.1452T>C NP_001341633.1:p.Asp484=
NM_001063.4:c.1833T>C MANE Select NP_001054.2:p.Asp611=
NM_001354703.2:c.1701T>C NP_001341632.2:p.Asp567=
NM_001354704.2:c.1452T>C NP_001341633.2:p.Asp484=