Canonical Allele Identifier: CA2624956

Gene: TF INHCAP

Linked Data

• ClinVar Variation Id: 343430
• ClinVar RCV Id: RCV000331959 ; RCV004021890
• dbSNP Id: rs199624323
• ExAC: 3:133473347 A / G
• gnomAD v2: 3-133473347-A-G
• gnomAD v3: 3-133754503-A-G
• gnomAD v4: 3-133754503-A-G
• MyVariant Identifiers: chr3:g.133473347A>G (hg19) ; chr3:g.133754503A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.133754503A>G , CM000665.2:g.133754503A>G	GRCh38
NC_000003.11:g.133473347A>G , CM000665.1:g.133473347A>G	GRCh37
NC_000003.10:g.134956037A>G	NCBI36
NG_013080.1:g.13371A>G
NG_013080.2:g.97506A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402696.9:c.334A>G (TF) MANE Select	ENSP00000385834.3:p.Thr112Ala
ENST00000402696.7:c.334A>G (TF)	ENSP00000385834.3:p.Thr112Ala
ENST00000414694.5:c.*71A>G (TF)	ENSP00000401505.1:n.*71A>G
ENST00000460564.5:n.499A>G (INHCAP)
ENST00000466911.5:c.202A>G (TF)	ENSP00000417468.1:p.Thr68Ala
ENST00000475382.5:n.426A>G (TF)
ENST00000482271.5:c.-48A>G (TF)	ENSP00000419338.1:n.-48A>G
ENST00000485977.1:c.158-2429A>G (TF)	ENSP00000418716.1:n.158-2429A>G
ENST00000493011.5:n.382A>G (TF)
ENST00000494430.5:c.326A>G (TF)	ENSP00000418396.1:p.Asp109Gly
ENST00000498622.1:n.563A>G (TF)
NM_001063.3:c.334A>G (TF)	NP_001054.1:p.Thr112Ala
XM_011513100.1:c.334A>G (TF)	XP_011511402.1:p.Thr112Ala
NM_001354703.1:c.202A>G (TF)	NP_001341632.1:p.Thr68Ala
NM_001354704.1:c.-48A>G (TF)	NP_001341633.1:n.-48A>G
NM_001063.4:c.334A>G (TF) MANE Select	NP_001054.2:p.Thr112Ala
NM_001354703.2:c.202A>G (TF)	NP_001341632.2:p.Thr68Ala
NM_001354704.2:c.-48A>G (TF)	NP_001341633.2:n.-48A>G