Canonical Allele Identifier: CA2625283

Gene: TF

Linked Data

• ClinVar Variation Id: 2901986
• ClinVar RCV Id: RCV003731543
• dbSNP Id: rs776669583
• ExAC: 3:133485115 C / T
• gnomAD v2: 3-133485115-C-T
• gnomAD v3: 3-133766271-C-T
• gnomAD v4: 3-133766271-C-T
• MyVariant Identifiers: chr3:g.133485115C>T (hg19) ; chr3:g.133766271C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.133766271C>T , CM000665.2:g.133766271C>T	GRCh38
NC_000003.11:g.133485115C>T , CM000665.1:g.133485115C>T	GRCh37
NC_000003.10:g.134967805C>T	NCBI36
NG_013080.1:g.25139C>T
NG_013080.2:g.109274C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402696.9:c.1331-7C>T MANE Select	ENSP00000385834.3:n.1331-7C>T
ENST00000402696.7:c.1331-7C>T	ENSP00000385834.3:n.1331-7C>T
NM_001063.3:c.1331-7C>T	NP_001054.1:n.1331-7C>T
XM_011513100.1:c.1331-7C>T	XP_011511402.1:n.1331-7C>T
NM_001354703.1:c.1199-7C>T	NP_001341632.1:n.1199-7C>T
NM_001354704.1:c.950-7C>T	NP_001341633.1:n.950-7C>T
NM_001063.4:c.1331-7C>T MANE Select	NP_001054.2:n.1331-7C>T
NM_001354703.2:c.1199-7C>T	NP_001341632.2:n.1199-7C>T
NM_001354704.2:c.950-7C>T	NP_001341633.2:n.950-7C>T