Canonical Allele Identifier: CA2625109

Gene: TF

Linked Data

• ClinVar Variation Id: 900554
• ClinVar RCV Id: RCV001145871 ; RCV003727910
• dbSNP Id: rs769998552
• ExAC: 3:133475811 C / T
• gnomAD v2: 3-133475811-C-T
• gnomAD v3: 3-133756967-C-T
• gnomAD v4: 3-133756967-C-T
• MyVariant Identifiers: chr3:g.133475811C>T (hg19) ; chr3:g.133756967C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.133756967C>T , CM000665.2:g.133756967C>T	GRCh38
NC_000003.11:g.133475811C>T , CM000665.1:g.133475811C>T	GRCh37
NC_000003.10:g.134958501C>T	NCBI36
NG_013080.1:g.15835C>T
NG_013080.2:g.99970C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402696.9:c.828C>T MANE Select	ENSP00000385834.3:p.Gly276=
ENST00000402696.7:c.828C>T	ENSP00000385834.3:p.Gly276=
ENST00000485977.1:c.193C>T	ENSP00000418716.1:p.Arg65Trp
NM_001063.3:c.828C>T	NP_001054.1:p.Gly276=
XM_011513100.1:c.828C>T	XP_011511402.1:p.Gly276=
NM_001354703.1:c.696C>T	NP_001341632.1:p.Gly232=
NM_001354704.1:c.447C>T	NP_001341633.1:p.Gly149=
NM_001063.4:c.828C>T MANE Select	NP_001054.2:p.Gly276=
NM_001354703.2:c.696C>T	NP_001341632.2:p.Gly232=
NM_001354704.2:c.447C>T	NP_001341633.2:p.Gly149=