Canonical Allele Identifier: CA5260637

Gene: COQ4

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128332931G>A , CM000671.2:g.128332931G>A	GRCh38
NC_000009.11:g.131095210G>A , CM000671.1:g.131095210G>A	GRCh37
NC_000009.10:g.130135031G>A	NCBI36
NG_042101.1:g.15424G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300452.8:c.614G>A MANE Select	ENSP00000300452.3:p.Arg205Gln
ENST00000300452.7:c.614G>A	ENSP00000300452.3:p.Arg205Gln
ENST00000461102.1:n.2520G>A
NM_001305942.1:c.*3-543G>A	NP_001292871.1:n.*3-543G>A
NM_016035.3:c.614G>A	NP_057119.2:p.Arg205Gln
NM_016035.4:c.614G>A	NP_057119.2:p.Arg205Gln
XR_929805.1:n.830G>A
XM_017014792.1:c.*84G>A	XP_016870281.1:n.*84G>A
XR_001746316.2:n.867G>A
XR_929805.3:n.830G>A
NM_016035.5:c.614G>A MANE Select	NP_057119.3:p.Arg205Gln
NM_001305942.2:c.*3-543G>A	NP_001292871.2:n.*3-543G>A