Canonical Allele Identifier: CA152480

Gene: COQ4

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128325797G>A , CM000671.2:g.128325797G>A	GRCh38
NC_000009.11:g.131088076G>A , CM000671.1:g.131088076G>A	GRCh37
NC_000009.10:g.130127897G>A	NCBI36
NG_042101.1:g.8290G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300452.8:c.318G>A MANE Select	ENSP00000300452.3:p.Ser106=
ENST00000300452.7:c.318G>A	ENSP00000300452.3:p.Ser106=
ENST00000372875.3:c.318G>A	ENSP00000361966.3:p.Ser106=
NM_001305942.1:c.221G>A	NP_001292871.1:p.Arg74Gln
NM_016035.3:c.318G>A	NP_057119.2:p.Ser106=
NM_016035.4:c.318G>A	NP_057119.2:p.Ser106=
XM_011518761.1:c.318G>A	XP_011517063.1:p.Ser106=
XR_929805.1:n.664G>A
XM_017014792.1:c.221G>A	XP_016870281.1:p.Arg74Gln
XM_017014793.1:c.221G>A	XP_016870282.1:p.Arg74Gln
XR_001746316.2:n.571G>A
XR_929805.3:n.664G>A
NM_016035.5:c.318G>A MANE Select	NP_057119.3:p.Ser106=
NM_001305942.2:c.221G>A	NP_001292871.2:p.Arg74Gln