Canonical Allele Identifier: CA2625094

Gene: TF

Linked Data

• dbSNP Id: rs763344243
• ExAC: 3:133475768 T / G
• gnomAD v2: 3-133475768-T-G
• gnomAD v3: 3-133756924-T-G
• gnomAD v4: 3-133756924-T-G
• MyVariant Identifiers: chr3:g.133475768T>G (hg19) ; chr3:g.133756924T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.133756924T>G , CM000665.2:g.133756924T>G	GRCh38
NC_000003.11:g.133475768T>G , CM000665.1:g.133475768T>G	GRCh37
NC_000003.10:g.134958458T>G	NCBI36
NG_013080.1:g.15792T>G
NG_013080.2:g.99927T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402696.9:c.785T>G MANE Select	ENSP00000385834.3:p.Leu262Trp
ENST00000402696.7:c.785T>G	ENSP00000385834.3:p.Leu262Trp
ENST00000485977.1:c.158-8T>G	ENSP00000418716.1:n.158-8T>G
NM_001063.3:c.785T>G	NP_001054.1:p.Leu262Trp
XM_011513100.1:c.785T>G	XP_011511402.1:p.Leu262Trp
NM_001354703.1:c.653T>G	NP_001341632.1:p.Leu218Trp
NM_001354704.1:c.404T>G	NP_001341633.1:p.Leu135Trp
NM_001063.4:c.785T>G MANE Select	NP_001054.2:p.Leu262Trp
NM_001354703.2:c.653T>G	NP_001341632.2:p.Leu218Trp
NM_001354704.2:c.404T>G	NP_001341633.2:p.Leu135Trp