Canonical Allele Identifier: CA5260574

Gene: COQ4

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128332184G>A , CM000671.2:g.128332184G>A	GRCh38
NC_000009.11:g.131094463G>A , CM000671.1:g.131094463G>A	GRCh37
NC_000009.10:g.130134284G>A	NCBI36
NG_042101.1:g.14677G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_016035.5:c.434G>A MANE Select	NP_057119.3:p.Arg145His
ENST00000300452.8:c.434G>A MANE Select	ENSP00000300452.3:p.Arg145His
NM_001305942.1:c.*3-1290G>A	NP_001292871.1:n.*3-1290G>A
NM_001305942.2:c.*3-1290G>A	NP_001292871.2:n.*3-1290G>A
NM_016035.3:c.434G>A	NP_057119.2:p.Arg145His
NM_016035.4:c.434G>A	NP_057119.2:p.Arg145His
ENST00000300452.7:c.434G>A	ENSP00000300452.3:p.Arg145His
ENST00000461102.1:n.1773G>A
XM_017014792.1:c.*3-666G>A	XP_016870281.1:n.*3-666G>A
XR_001746316.2:n.687G>A
XR_929805.1:n.749-666G>A
XR_929805.3:n.749-666G>A