Canonical Allele Identifier: CA2625100

Gene: TF

Linked Data

• ClinVar Variation Id: 2891501
• ClinVar RCV Id: RCV003722991
• dbSNP Id: rs756846601
• ExAC: 3:133475790 C / T
• gnomAD v2: 3-133475790-C-T
• gnomAD v3: 3-133756946-C-T
• gnomAD v4: 3-133756946-C-T
• MyVariant Identifiers: chr3:g.133475790C>T (hg19) ; chr3:g.133756946C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.133756946C>T , CM000665.2:g.133756946C>T	GRCh38
NC_000003.11:g.133475790C>T , CM000665.1:g.133475790C>T	GRCh37
NC_000003.10:g.134958480C>T	NCBI36
NG_013080.1:g.15814C>T
NG_013080.2:g.99949C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402696.9:c.807C>T MANE Select	ENSP00000385834.3:p.Thr269=
ENST00000402696.7:c.807C>T	ENSP00000385834.3:p.Thr269=
ENST00000485977.1:c.172C>T	ENSP00000418716.1:p.Arg58Cys
NM_001063.3:c.807C>T	NP_001054.1:p.Thr269=
XM_011513100.1:c.807C>T	XP_011511402.1:p.Thr269=
NM_001354703.1:c.675C>T	NP_001341632.1:p.Thr225=
NM_001354704.1:c.426C>T	NP_001341633.1:p.Thr142=
NM_001063.4:c.807C>T MANE Select	NP_001054.2:p.Thr269=
NM_001354703.2:c.675C>T	NP_001341632.2:p.Thr225=
NM_001354704.2:c.426C>T	NP_001341633.2:p.Thr142=