Canonical Allele Identifier: CA2625299

Gene: TF

Linked Data

• ClinVar Variation Id: 2960079
• ClinVar RCV Id: RCV003814839
• dbSNP Id: rs768526440
• ExAC: 3:133485222 T / C
• gnomAD v2: 3-133485222-T-C
• gnomAD v3: 3-133766378-T-C
• gnomAD v4: 3-133766378-T-C
• COSMIC: COSM5486320
• MyVariant Identifiers: chr3:g.133485222T>C (hg19) ; chr3:g.133766378T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.133766378T>C , CM000665.2:g.133766378T>C	GRCh38
NC_000003.11:g.133485222T>C , CM000665.1:g.133485222T>C	GRCh37
NC_000003.10:g.134967912T>C	NCBI36
NG_013080.1:g.25246T>C
NG_013080.2:g.109381T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000402696.9:c.1431T>C MANE Select	ENSP00000385834.3:p.Ala477=
ENST00000402696.7:c.1431T>C	ENSP00000385834.3:p.Ala477=
ENST00000461695.1:c.101T>C
NM_001063.3:c.1431T>C	NP_001054.1:p.Ala477=
XM_011513100.1:c.1431T>C	XP_011511402.1:p.Ala477=
NM_001354703.1:c.1299T>C	NP_001341632.1:p.Ala433=
NM_001354704.1:c.1050T>C	NP_001341633.1:p.Ala350=
NM_001063.4:c.1431T>C MANE Select	NP_001054.2:p.Ala477=
NM_001354703.2:c.1299T>C	NP_001341632.2:p.Ala433=
NM_001354704.2:c.1050T>C	NP_001341633.2:p.Ala350=