Canonical Allele Identifier: CA1139767769

Gene: COQ4

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.[128325224G>A;128325784G>A] , CM000671.2:g.[128325224G>A;128325784G>A]	GRCh38
NC_000009.11:g.[131087503G>A;131088063G>A] , CM000671.1:g.[131087503G>A;131088063G>A]	GRCh37
NC_000009.10:g.[130127324G>A;130127884G>A]	NCBI36
NG_042101.1:g.[7717G>A;8277G>A]

Transcript Alleles

HGVS	Amino-acid Change
NM_016035.5:c.[284G>A;305G>A] MANE Select	NP_057119.3:p.[Gly95Asp;Arg102His]
ENST00000300452.8:c.[284G>A;305G>A] MANE Select	ENSP00000300452.3:p.[Gly95Asp;Arg102His]
NM_001305942.1:c.[203-555G>A;208G>A]	NP_001292871.1:p.Val70Ile
NM_001305942.2:c.[203-555G>A;208G>A]	NP_001292871.2:p.Val70Ile
NM_016035.3:c.[284G>A;305G>A]	NP_057119.2:p.[Gly95Asp;Arg102His]
NM_016035.4:c.[284G>A;305G>A]	NP_057119.2:p.[Gly95Asp;Arg102His]
ENST00000300452.7:c.[284G>A;305G>A]	ENSP00000300452.3:p.[Gly95Asp;Arg102His]
ENST00000372875.3:c.[284G>A;305G>A]	ENSP00000361966.3:p.[Gly95Asp;Arg102His]
XM_011518761.1:c.[284G>A;305G>A]	XP_011517063.1:p.[Gly95Asp;Arg102His]
XM_017014792.1:c.[203-555G>A;208G>A]	XP_016870281.1:p.Val70Ile
XM_017014793.1:c.[203-555G>A;208G>A]	XP_016870282.1:p.Val70Ile
XR_001746316.2:n.[553-555G>A;558G>A]
XR_929805.1:n.[630G>A;651G>A]
XR_929805.3:n.[630G>A;651G>A]