Canonical Allele Identifier: CA2543556

Gene: CFAP44

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.113291704T>C , CM000665.2:g.113291704T>C	GRCh38
NC_000003.11:g.113010551T>C , CM000665.1:g.113010551T>C	GRCh37
NC_000003.10:g.114493241T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001164496.2:c.5418A>G MANE Select	NP_001157968.1:p.Arg1806=
ENST00000393845.9:c.5418A>G MANE Select	ENSP00000377428.2:p.Arg1806=
NM_001164496.1:c.5418A>G	NP_001157968.1:p.Arg1806=
ENST00000393845.6:c.5418A>G	ENSP00000377428.2:p.Arg1806=
ENST00000461734.1:c.1367A>G
ENST00000465636.5:c.2827A>G
ENST00000484923.1:n.550A>G
ENST00000489244.1:c.510A>G
XM_005247617.2:c.3123A>G	XP_005247674.1:p.Arg1041=
XM_006713696.1:c.5550A>G	XP_006713759.1:p.Arg1850=
XM_006713697.1:c.5397A>G	XP_006713760.1:p.Arg1799=
XM_011512975.1:c.5550A>G	XP_011511277.1:p.Arg1850=
XM_011512976.1:c.5418A>G	XP_011511278.1:p.Arg1806=
XM_011512977.1:c.5178A>G	XP_011511279.1:p.Arg1726=
XM_011512978.1:c.4869A>G	XP_011511280.1:p.Arg1623=
XM_011512979.1:c.4518A>G	XP_011511281.1:p.Arg1506=
XR_427370.1:n.6162A>G