Canonical Allele Identifier: CA2625410

Gene: TF

Linked Data

• ClinVar Variation Id: 2877162
• ClinVar RCV Id: RCV003712744
• dbSNP Id: rs778400078
• ExAC: 3:133494371 G / T
• gnomAD v2: 3-133494371-G-T
• gnomAD v3: 3-133775527-G-T
• gnomAD v4: 3-133775527-G-T
• MyVariant Identifiers: chr3:g.133494371G>T (hg19) ; chr3:g.133775527G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.133775527G>T , CM000665.2:g.133775527G>T	GRCh38
NC_000003.11:g.133494371G>T , CM000665.1:g.133494371G>T	GRCh37
NC_000003.10:g.134977061G>T	NCBI36
NG_013080.1:g.34395G>T
NG_013080.2:g.118530G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000402696.9:c.1782G>T MANE Select	ENSP00000385834.3:p.Ala594=
ENST00000402696.7:c.1782G>T	ENSP00000385834.3:p.Ala594=
ENST00000461695.1:c.513G>T
ENST00000467842.1:n.2776G>T
NM_001063.3:c.1782G>T	NP_001054.1:p.Ala594=
XM_011513100.1:c.1782G>T	XP_011511402.1:p.Ala594=
NM_001354703.1:c.1650G>T	NP_001341632.1:p.Ala550=
NM_001354704.1:c.1401G>T	NP_001341633.1:p.Ala467=
NM_001063.4:c.1782G>T MANE Select	NP_001054.2:p.Ala594=
NM_001354703.2:c.1650G>T	NP_001341632.2:p.Ala550=
NM_001354704.2:c.1401G>T	NP_001341633.2:p.Ala467=