Canonical Allele Identifier: CA354610134

Gene: TF

Linked Data

• dbSNP Id: rs1222368120
• gnomAD v2: 3-133494296-G-T
• MyVariant Identifiers: chr3:g.133494296G>T (hg19) ; chr3:g.133775452G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.133775452G>T , CM000665.2:g.133775452G>T	GRCh38
NC_000003.11:g.133494296G>T , CM000665.1:g.133494296G>T	GRCh37
NC_000003.10:g.134976986G>T	NCBI36
NG_013080.1:g.34320G>T
NG_013080.2:g.118455G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402696.9:c.1707G>T MANE Select	ENSP00000385834.3:p.Trp569Cys
ENST00000402696.7:c.1707G>T	ENSP00000385834.3:p.Trp569Cys
ENST00000461695.1:c.438G>T
ENST00000467842.1:n.2701G>T
NM_001063.3:c.1707G>T	NP_001054.1:p.Trp569Cys
XM_011513100.1:c.1707G>T	XP_011511402.1:p.Trp569Cys
NM_001354703.1:c.1575G>T	NP_001341632.1:p.Trp525Cys
NM_001354704.1:c.1326G>T	NP_001341633.1:p.Trp442Cys
NM_001063.4:c.1707G>T MANE Select	NP_001054.2:p.Trp569Cys
NM_001354703.2:c.1575G>T	NP_001341632.2:p.Trp525Cys
NM_001354704.2:c.1326G>T	NP_001341633.2:p.Trp442Cys