Canonical Allele Identifier: CA5260520

Gene: COQ4

Linked Data

• ClinVar Variation Id: 1390093
• ClinVar RCV Id: RCV001917512
• dbSNP Id: rs530213004
• ExAC: 9:131088089 G / A
• gnomAD v2: 9-131088089-G-A
• gnomAD v3: 9-128325810-G-A
• gnomAD v4: 9-128325810-G-A
• MyVariant Identifiers: chr9:g.131088089G>A (hg19) ; chr9:g.128325810G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128325810G>A , CM000671.2:g.128325810G>A	GRCh38
NC_000009.11:g.131088089G>A , CM000671.1:g.131088089G>A	GRCh37
NC_000009.10:g.130127910G>A	NCBI36
NG_042101.1:g.8303G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000300452.8:c.331G>A MANE Select	ENSP00000300452.3:p.Asp111Asn
ENST00000300452.7:c.331G>A	ENSP00000300452.3:p.Asp111Asn
ENST00000372875.3:c.331G>A	ENSP00000361966.3:p.Asp111Asn
NM_001305942.1:c.234G>A	NP_001292871.1:p.Ser78=
NM_016035.3:c.331G>A	NP_057119.2:p.Asp111Asn
NM_016035.4:c.331G>A	NP_057119.2:p.Asp111Asn
XM_011518761.1:c.331G>A	XP_011517063.1:p.Asp111Asn
XR_929805.1:n.677G>A
XM_017014792.1:c.234G>A	XP_016870281.1:p.Ser78=
XM_017014793.1:c.234G>A	XP_016870282.1:p.Ser78=
XR_001746316.2:n.584G>A
XR_929805.3:n.677G>A
NM_016035.5:c.331G>A MANE Select	NP_057119.3:p.Asp111Asn
NM_001305942.2:c.234G>A	NP_001292871.2:p.Ser78=