Canonical Allele Identifier: CA353777690

Gene: CFAP44

Linked Data

• MyVariant Identifiers: chr3:g.113046551T>A (hg19) ; chr3:g.113327704T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.113327704T>A , CM000665.2:g.113327704T>A	GRCh38
NC_000003.11:g.113046551T>A , CM000665.1:g.113046551T>A	GRCh37
NC_000003.10:g.114529241T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000393845.9:c.4232A>T MANE Select	ENSP00000377428.2:p.Glu1411Val
ENST00000393845.6:c.4232A>T	ENSP00000377428.2:p.Glu1411Val
ENST00000461734.1:c.94A>T
ENST00000465636.5:c.1641A>T
NM_001164496.1:c.4232A>T	NP_001157968.1:p.Glu1411Val
XM_005247617.2:c.1937A>T	XP_005247674.1:p.Glu646Val
XM_006713696.1:c.4364A>T	XP_006713759.1:p.Glu1455Val
XM_006713697.1:c.4211A>T	XP_006713760.1:p.Glu1404Val
XM_011512975.1:c.4364A>T	XP_011511277.1:p.Glu1455Val
XM_011512976.1:c.4232A>T	XP_011511278.1:p.Glu1411Val
XM_011512977.1:c.3992A>T	XP_011511279.1:p.Glu1331Val
XM_011512978.1:c.3683A>T	XP_011511280.1:p.Glu1228Val
XM_011512979.1:c.3332A>T	XP_011511281.1:p.Glu1111Val
XR_427370.1:n.4889A>T
XR_427371.2:n.4889A>T
NM_001164496.2:c.4232A>T MANE Select	NP_001157968.1:p.Glu1411Val