Canonical Allele Identifier: CA354610377

Gene: TF

Linked Data

• ClinVar Variation Id: 2613931
• ClinVar RCV Id: RCV003376331
• MyVariant Identifiers: chr3:g.133494364A>G (hg19) ; chr3:g.133775520A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.133775520A>G , CM000665.2:g.133775520A>G	GRCh38
NC_000003.11:g.133494364A>G , CM000665.1:g.133494364A>G	GRCh37
NC_000003.10:g.134977054A>G	NCBI36
NG_013080.1:g.34388A>G
NG_013080.2:g.118523A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000402696.9:c.1775A>G MANE Select	ENSP00000385834.3:p.Glu592Gly
ENST00000402696.7:c.1775A>G	ENSP00000385834.3:p.Glu592Gly
ENST00000461695.1:c.506A>G
ENST00000467842.1:n.2769A>G
NM_001063.3:c.1775A>G	NP_001054.1:p.Glu592Gly
XM_011513100.1:c.1775A>G	XP_011511402.1:p.Glu592Gly
NM_001354703.1:c.1643A>G	NP_001341632.1:p.Glu548Gly
NM_001354704.1:c.1394A>G	NP_001341633.1:p.Glu465Gly
NM_001063.4:c.1775A>G MANE Select	NP_001054.2:p.Glu592Gly
NM_001354703.2:c.1643A>G	NP_001341632.2:p.Glu548Gly
NM_001354704.2:c.1394A>G	NP_001341633.2:p.Glu465Gly