Canonical Allele Identifier: CA3099601401

Gene: CFAP44

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.113396528A= , CM000665.2:g.113396528A=	GRCh38
NC_000003.11:g.113115375A= , CM000665.1:g.113115375A=	GRCh37
NC_000003.10:g.114598065A=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393845.9:c.1769T= MANE Select	ENSP00000377428.2:p.Leu590=
ENST00000649772.1:c.*1870T=	ENSP00000497606.1:n.*1870T=
ENST00000295868.6:c.1769T=	ENSP00000295868.2:p.Leu590=
ENST00000393845.6:c.1769T=	ENSP00000377428.2:p.Leu590=
ENST00000475568.1:n.387T=
ENST00000488854.6:c.*1185T=	ENSP00000419844.2:n.*1185T=
NM_001164496.1:c.1769T=	NP_001157968.1:p.Leu590=
NM_018338.3:c.1769T=	NP_060808.2:p.Leu590=
XM_006713696.1:c.1901T=	XP_006713759.1:p.Leu634=
XM_006713697.1:c.1748T=	XP_006713760.1:p.Leu583=
XM_006713699.2:c.1901T=	XP_006713762.1:p.Leu634=
XM_011512975.1:c.1901T=	XP_011511277.1:p.Leu634=
XM_011512976.1:c.1769T=	XP_011511278.1:p.Leu590=
XM_011512977.1:c.1901T=	XP_011511279.1:p.Leu634=
XM_011512978.1:c.1220T=	XP_011511280.1:p.Leu407=
XM_011512979.1:c.869T=	XP_011511281.1:p.Leu290=
XM_011512980.1:c.1901T=	XP_011511282.1:p.Leu634=
XM_011512981.1:c.1901T=	XP_011511283.1:p.Leu634=
XM_011512982.1:c.1901T=	XP_011511284.1:p.Leu634=
XM_011512983.1:c.1901T=	XP_011511285.1:p.Leu634=
XM_011512984.1:c.1901T=	XP_011511286.1:p.Leu634=
XR_427370.1:n.2426T=
XR_427371.2:n.2426T=
NM_001164496.2:c.1769T= MANE Select	NP_001157968.1:p.Leu590=