Canonical Allele Identifier: CA353777676

Gene: CFAP44

Linked Data

• MyVariant Identifiers: chr3:g.113046545A>G (hg19) ; chr3:g.113327698A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.113327698A>G , CM000665.2:g.113327698A>G	GRCh38
NC_000003.11:g.113046545A>G , CM000665.1:g.113046545A>G	GRCh37
NC_000003.10:g.114529235A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000393845.9:c.4238T>C MANE Select	ENSP00000377428.2:p.Leu1413Pro
ENST00000393845.6:c.4238T>C	ENSP00000377428.2:p.Leu1413Pro
ENST00000461734.1:c.100T>C
ENST00000465636.5:c.1647T>C
NM_001164496.1:c.4238T>C	NP_001157968.1:p.Leu1413Pro
XM_005247617.2:c.1943T>C	XP_005247674.1:p.Leu648Pro
XM_006713696.1:c.4370T>C	XP_006713759.1:p.Leu1457Pro
XM_006713697.1:c.4217T>C	XP_006713760.1:p.Leu1406Pro
XM_011512975.1:c.4370T>C	XP_011511277.1:p.Leu1457Pro
XM_011512976.1:c.4238T>C	XP_011511278.1:p.Leu1413Pro
XM_011512977.1:c.3998T>C	XP_011511279.1:p.Leu1333Pro
XM_011512978.1:c.3689T>C	XP_011511280.1:p.Leu1230Pro
XM_011512979.1:c.3338T>C	XP_011511281.1:p.Leu1113Pro
XR_427370.1:n.4895T>C
XR_427371.2:n.4895T>C
NM_001164496.2:c.4238T>C MANE Select	NP_001157968.1:p.Leu1413Pro