Canonical Allele Identifier: CA5260532

Gene: COQ4

Linked Data

• ClinVar Variation Id: 476179
• ClinVar RCV Id: RCV000543798 ; RCV003482287
• dbSNP Id: rs776825296
• ExAC: 9:131088128 G / A
• gnomAD v2: 9-131088128-G-A
• gnomAD v3: 9-128325849-G-A
• gnomAD v4: 9-128325849-G-A
• MyVariant Identifiers: chr9:g.131088128G>A (hg19) ; chr9:g.128325849G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128325849G>A , CM000671.2:g.128325849G>A	GRCh38
NC_000009.11:g.131088128G>A , CM000671.1:g.131088128G>A	GRCh37
NC_000009.10:g.130127949G>A	NCBI36
NG_042101.1:g.8342G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300452.8:c.370G>A MANE Select	ENSP00000300452.3:p.Gly124Ser
ENST00000300452.7:c.370G>A	ENSP00000300452.3:p.Gly124Ser
ENST00000372875.3:c.370G>A	ENSP00000361966.3:p.Gly124Ser
NM_001305942.1:c.273G>A	NP_001292871.1:p.Ser91=
NM_016035.3:c.370G>A	NP_057119.2:p.Gly124Ser
NM_016035.4:c.370G>A	NP_057119.2:p.Gly124Ser
XM_011518761.1:c.370G>A	XP_011517063.1:p.Gly124Ser
XR_929805.1:n.716G>A
XM_017014792.1:c.273G>A	XP_016870281.1:p.Ser91=
XM_017014793.1:c.273G>A	XP_016870282.1:p.Ser91=
XR_001746316.2:n.623G>A
XR_929805.3:n.716G>A
NM_016035.5:c.370G>A MANE Select	NP_057119.3:p.Gly124Ser
NM_001305942.2:c.273G>A	NP_001292871.2:p.Ser91=