Canonical Allele Identifier: CA354610319

Gene: TF

Linked Data

• MyVariant Identifiers: chr3:g.133494337T>A (hg19) ; chr3:g.133775493T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.133775493T>A , CM000665.2:g.133775493T>A	GRCh38
NC_000003.11:g.133494337T>A , CM000665.1:g.133494337T>A	GRCh37
NC_000003.10:g.134977027T>A	NCBI36
NG_013080.1:g.34361T>A
NG_013080.2:g.118496T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402696.9:c.1748T>A MANE Select	ENSP00000385834.3:p.Leu583His
ENST00000402696.7:c.1748T>A	ENSP00000385834.3:p.Leu583His
ENST00000461695.1:c.479T>A
ENST00000467842.1:n.2742T>A
NM_001063.3:c.1748T>A	NP_001054.1:p.Leu583His
XM_011513100.1:c.1748T>A	XP_011511402.1:p.Leu583His
NM_001354703.1:c.1616T>A	NP_001341632.1:p.Leu539His
NM_001354704.1:c.1367T>A	NP_001341633.1:p.Leu456His
NM_001063.4:c.1748T>A MANE Select	NP_001054.2:p.Leu583His
NM_001354703.2:c.1616T>A	NP_001341632.2:p.Leu539His
NM_001354704.2:c.1367T>A	NP_001341633.2:p.Leu456His