Canonical Allele Identifier: CA2625082

Gene: TF

Linked Data

• dbSNP Id: rs748877009
• ExAC: 3:133475713 C / T
• gnomAD v2: 3-133475713-C-T
• gnomAD v4: 3-133756869-C-T
• MyVariant Identifiers: chr3:g.133475713C>T (hg19) ; chr3:g.133756869C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.133756869C>T , CM000665.2:g.133756869C>T	GRCh38
NC_000003.11:g.133475713C>T , CM000665.1:g.133475713C>T	GRCh37
NC_000003.10:g.134958403C>T	NCBI36
NG_013080.1:g.15737C>T
NG_013080.2:g.99872C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000402696.9:c.730C>T MANE Select	ENSP00000385834.3:p.Leu244=
ENST00000402696.7:c.730C>T	ENSP00000385834.3:p.Leu244=
ENST00000482271.5:c.349C>T	ENSP00000419338.1:p.Leu117=
ENST00000485977.1:c.158-63C>T	ENSP00000418716.1:n.158-63C>T
NM_001063.3:c.730C>T	NP_001054.1:p.Leu244=
XM_011513100.1:c.730C>T	XP_011511402.1:p.Leu244=
NM_001354703.1:c.598C>T	NP_001341632.1:p.Leu200=
NM_001354704.1:c.349C>T	NP_001341633.1:p.Leu117=
NM_001063.4:c.730C>T MANE Select	NP_001054.2:p.Leu244=
NM_001354703.2:c.598C>T	NP_001341632.2:p.Leu200=
NM_001354704.2:c.349C>T	NP_001341633.2:p.Leu117=