Canonical Allele Identifier: CA354604780

Gene: TF

Linked Data

• gnomAD v4: 3-133756879-T-G
• MyVariant Identifiers: chr3:g.133475723T>G (hg19) ; chr3:g.133756879T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.133756879T>G , CM000665.2:g.133756879T>G	GRCh38
NC_000003.11:g.133475723T>G , CM000665.1:g.133475723T>G	GRCh37
NC_000003.10:g.134958413T>G	NCBI36
NG_013080.1:g.15747T>G
NG_013080.2:g.99882T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000402696.9:c.740T>G MANE Select	ENSP00000385834.3:p.Leu247Arg
ENST00000402696.7:c.740T>G	ENSP00000385834.3:p.Leu247Arg
ENST00000482271.5:c.359T>G	ENSP00000419338.1:p.Leu120Arg
ENST00000485977.1:c.158-53T>G	ENSP00000418716.1:n.158-53T>G
NM_001063.3:c.740T>G	NP_001054.1:p.Leu247Arg
XM_011513100.1:c.740T>G	XP_011511402.1:p.Leu247Arg
NM_001354703.1:c.608T>G	NP_001341632.1:p.Leu203Arg
NM_001354704.1:c.359T>G	NP_001341633.1:p.Leu120Arg
NM_001063.4:c.740T>G MANE Select	NP_001054.2:p.Leu247Arg
NM_001354703.2:c.608T>G	NP_001341632.2:p.Leu203Arg
NM_001354704.2:c.359T>G	NP_001341633.2:p.Leu120Arg