Canonical Allele Identifier: CA200334913

Gene: COQ4

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128325784G>A , CM000671.2:g.128325784G>A	GRCh38
NC_000009.11:g.131088063G>A , CM000671.1:g.131088063G>A	GRCh37
NC_000009.10:g.130127884G>A	NCBI36
NG_042101.1:g.8277G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_016035.5:c.305G>A MANE Select	NP_057119.3:p.Arg102His
ENST00000300452.8:c.305G>A MANE Select	ENSP00000300452.3:p.Arg102His
NM_001305942.1:c.208G>A	NP_001292871.1:p.Val70Ile
NM_001305942.2:c.208G>A	NP_001292871.2:p.Val70Ile
NM_016035.3:c.305G>A	NP_057119.2:p.Arg102His
NM_016035.4:c.305G>A	NP_057119.2:p.Arg102His
ENST00000300452.7:c.305G>A	ENSP00000300452.3:p.Arg102His
ENST00000372875.3:c.305G>A	ENSP00000361966.3:p.Arg102His
XM_011518761.1:c.305G>A	XP_011517063.1:p.Arg102His
XM_017014792.1:c.208G>A	XP_016870281.1:p.Val70Ile
XM_017014793.1:c.208G>A	XP_016870282.1:p.Val70Ile
XR_001746316.2:n.558G>A
XR_929805.1:n.651G>A
XR_929805.3:n.651G>A