Canonical Allele Identifier: CA354610111

Gene: TF

Linked Data

• dbSNP Id: rs1934362191
• gnomAD v4: 3-133775447-C-A
• MyVariant Identifiers: chr3:g.133494291C>A (hg19) ; chr3:g.133775447C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.133775447C>A , CM000665.2:g.133775447C>A	GRCh38
NC_000003.11:g.133494291C>A , CM000665.1:g.133494291C>A	GRCh37
NC_000003.10:g.134976981C>A	NCBI36
NG_013080.1:g.34315C>A
NG_013080.2:g.118450C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000402696.9:c.1702C>A MANE Select	ENSP00000385834.3:p.Pro568Thr
ENST00000402696.7:c.1702C>A	ENSP00000385834.3:p.Pro568Thr
ENST00000461695.1:c.433C>A
ENST00000467842.1:n.2696C>A
NM_001063.3:c.1702C>A	NP_001054.1:p.Pro568Thr
XM_011513100.1:c.1702C>A	XP_011511402.1:p.Pro568Thr
NM_001354703.1:c.1570C>A	NP_001341632.1:p.Pro524Thr
NM_001354704.1:c.1321C>A	NP_001341633.1:p.Pro441Thr
NM_001063.4:c.1702C>A MANE Select	NP_001054.2:p.Pro568Thr
NM_001354703.2:c.1570C>A	NP_001341632.2:p.Pro524Thr
NM_001354704.2:c.1321C>A	NP_001341633.2:p.Pro441Thr