Canonical Allele Identifier: CA435815926

Gene: TF

Linked Data

• ClinVar Variation Id: 2983988
• ClinVar RCV Id: RCV003841083
• dbSNP Id: rs1258870030
• gnomAD v2: 3-133495958-G-A
• gnomAD v4: 3-133777114-G-A
• MyVariant Identifiers: chr3:g.133495958G>A (hg19) ; chr3:g.133777114G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.133777114G>A , CM000665.2:g.133777114G>A	GRCh38
NC_000003.11:g.133495958G>A , CM000665.1:g.133495958G>A	GRCh37
NC_000003.10:g.134978648G>A	NCBI36
NG_013080.1:g.35982G>A
NG_013080.2:g.120117G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000402696.9:c.1938G>A MANE Select	ENSP00000385834.3:p.Lys646=
ENST00000402696.7:c.1938G>A	ENSP00000385834.3:p.Lys646=
ENST00000461695.1:c.669G>A
ENST00000467842.1:n.2932G>A
NM_001063.3:c.1938G>A	NP_001054.1:p.Lys646=
XM_011513100.1:c.1938G>A	XP_011511402.1:p.Lys646=
NM_001354703.1:c.1806G>A	NP_001341632.1:p.Lys602=
NM_001354704.1:c.1557G>A	NP_001341633.1:p.Lys519=
NM_001063.4:c.1938G>A MANE Select	NP_001054.2:p.Lys646=
NM_001354703.2:c.1806G>A	NP_001341632.2:p.Lys602=
NM_001354704.2:c.1557G>A	NP_001341633.2:p.Lys519=