Canonical Allele Identifier: CA5260572

Gene: COQ4

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128332174G>A , CM000671.2:g.128332174G>A	GRCh38
NC_000009.11:g.131094453G>A , CM000671.1:g.131094453G>A	GRCh37
NC_000009.10:g.130134274G>A	NCBI36
NG_042101.1:g.14667G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300452.8:c.424G>A MANE Select	ENSP00000300452.3:p.Ala142Thr
ENST00000300452.7:c.424G>A	ENSP00000300452.3:p.Ala142Thr
ENST00000461102.1:n.1763G>A
NM_001305942.1:c.*3-1300G>A	NP_001292871.1:n.*3-1300G>A
NM_016035.3:c.424G>A	NP_057119.2:p.Ala142Thr
NM_016035.4:c.424G>A	NP_057119.2:p.Ala142Thr
XR_929805.1:n.749-676G>A
XM_017014792.1:c.*3-676G>A	XP_016870281.1:n.*3-676G>A
XR_001746316.2:n.677G>A
XR_929805.3:n.749-676G>A
NM_016035.5:c.424G>A MANE Select	NP_057119.3:p.Ala142Thr
NM_001305942.2:c.*3-1300G>A	NP_001292871.2:n.*3-1300G>A