Canonical Allele Identifier: CA83692821

Gene: TF

Linked Data

• ClinVar Variation Id: 3008443
• ClinVar RCV Id: RCV003867106
• dbSNP Id: rs548264162
• gnomAD v3: 3-133775488-G-A
• gnomAD v4: 3-133775488-G-A
• MyVariant Identifiers: chr3:g.133494332G>A (hg19) ; chr3:g.133775488G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.133775488G>A , CM000665.2:g.133775488G>A	GRCh38
NC_000003.11:g.133494332G>A , CM000665.1:g.133494332G>A	GRCh37
NC_000003.10:g.134977022G>A	NCBI36
NG_013080.1:g.34356G>A
NG_013080.2:g.118491G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402696.9:c.1743G>A MANE Select	ENSP00000385834.3:p.Leu581=
ENST00000402696.7:c.1743G>A	ENSP00000385834.3:p.Leu581=
ENST00000461695.1:c.474G>A
ENST00000467842.1:n.2737G>A
NM_001063.3:c.1743G>A	NP_001054.1:p.Leu581=
XM_011513100.1:c.1743G>A	XP_011511402.1:p.Leu581=
NM_001354703.1:c.1611G>A	NP_001341632.1:p.Leu537=
NM_001354704.1:c.1362G>A	NP_001341633.1:p.Leu454=
NM_001063.4:c.1743G>A MANE Select	NP_001054.2:p.Leu581=
NM_001354703.2:c.1611G>A	NP_001341632.2:p.Leu537=
NM_001354704.2:c.1362G>A	NP_001341633.2:p.Leu454=