Canonical Allele Identifier: CA354610090

Gene: TF

Linked Data

• dbSNP Id: rs1280662173
• gnomAD v2: 3-133494286-C-A
• gnomAD v4: 3-133775442-C-A
• MyVariant Identifiers: chr3:g.133494286C>A (hg19) ; chr3:g.133775442C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.133775442C>A , CM000665.2:g.133775442C>A	GRCh38
NC_000003.11:g.133494286C>A , CM000665.1:g.133494286C>A	GRCh37
NC_000003.10:g.134976976C>A	NCBI36
NG_013080.1:g.34310C>A
NG_013080.2:g.118445C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402696.9:c.1697C>A MANE Select	ENSP00000385834.3:p.Pro566His
ENST00000402696.7:c.1697C>A	ENSP00000385834.3:p.Pro566His
ENST00000461695.1:c.428C>A
ENST00000467842.1:n.2691C>A
NM_001063.3:c.1697C>A	NP_001054.1:p.Pro566His
XM_011513100.1:c.1697C>A	XP_011511402.1:p.Pro566His
NM_001354703.1:c.1565C>A	NP_001341632.1:p.Pro522His
NM_001354704.1:c.1316C>A	NP_001341633.1:p.Pro439His
NM_001063.4:c.1697C>A MANE Select	NP_001054.2:p.Pro566His
NM_001354703.2:c.1565C>A	NP_001341632.2:p.Pro522His
NM_001354704.2:c.1316C>A	NP_001341633.2:p.Pro439His