Canonical Allele Identifier: CA5260480

Gene: COQ4

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128325224G>A , CM000671.2:g.128325224G>A	GRCh38
NC_000009.11:g.131087503G>A , CM000671.1:g.131087503G>A	GRCh37
NC_000009.10:g.130127324G>A	NCBI36
NG_042101.1:g.7717G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_016035.5:c.284G>A MANE Select	NP_057119.3:p.Gly95Asp
ENST00000300452.8:c.284G>A MANE Select	ENSP00000300452.3:p.Gly95Asp
NM_001305942.1:c.203-555G>A	NP_001292871.1:n.203-555G>A
NM_001305942.2:c.203-555G>A	NP_001292871.2:n.203-555G>A
NM_016035.3:c.284G>A	NP_057119.2:p.Gly95Asp
NM_016035.4:c.284G>A	NP_057119.2:p.Gly95Asp
ENST00000300452.7:c.284G>A	ENSP00000300452.3:p.Gly95Asp
ENST00000372875.3:c.284G>A	ENSP00000361966.3:p.Gly95Asp
XM_011518761.1:c.284G>A	XP_011517063.1:p.Gly95Asp
XM_017014792.1:c.203-555G>A	XP_016870281.1:n.203-555G>A
XM_017014793.1:c.203-555G>A	XP_016870282.1:n.203-555G>A
XR_001746316.2:n.553-555G>A
XR_929805.1:n.630G>A
XR_929805.3:n.630G>A