Canonical Allele Identifier: CA353777915

Gene: CFAP44

Linked Data

• MyVariant Identifiers: chr3:g.113046640A>C (hg19) ; chr3:g.113327793A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.113327793A>C , CM000665.2:g.113327793A>C	GRCh38
NC_000003.11:g.113046640A>C , CM000665.1:g.113046640A>C	GRCh37
NC_000003.10:g.114529330A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000393845.9:c.4143T>G MANE Select	ENSP00000377428.2:p.Asp1381Glu
ENST00000393845.6:c.4143T>G	ENSP00000377428.2:p.Asp1381Glu
ENST00000461734.1:c.5T>G
ENST00000465636.5:c.1552T>G
NM_001164496.1:c.4143T>G	NP_001157968.1:p.Asp1381Glu
XM_005247617.2:c.1848T>G	XP_005247674.1:p.Asp616Glu
XM_006713696.1:c.4275T>G	XP_006713759.1:p.Asp1425Glu
XM_006713697.1:c.4122T>G	XP_006713760.1:p.Asp1374Glu
XM_011512975.1:c.4275T>G	XP_011511277.1:p.Asp1425Glu
XM_011512976.1:c.4143T>G	XP_011511278.1:p.Asp1381Glu
XM_011512977.1:c.3903T>G	XP_011511279.1:p.Asp1301Glu
XM_011512978.1:c.3594T>G	XP_011511280.1:p.Asp1198Glu
XM_011512979.1:c.3243T>G	XP_011511281.1:p.Asp1081Glu
XR_427370.1:n.4800T>G
XR_427371.2:n.4800T>G
NM_001164496.2:c.4143T>G MANE Select	NP_001157968.1:p.Asp1381Glu