Canonical Allele Identifier: CA5260426

Gene: COQ4

Linked Data

• ClinVar Variation Id: 2047184
• ClinVar RCV Id: RCV002926787
• dbSNP Id: rs753646987
• ExAC: 9:131085416 C / A
• gnomAD v2: 9-131085416-C-A
• gnomAD v3: 9-128323137-C-A
• gnomAD v4: 9-128323137-C-A
• MyVariant Identifiers: chr9:g.131085416C>A (hg19) ; chr9:g.128323137C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128323137C>A , CM000671.2:g.128323137C>A	GRCh38
NC_000009.11:g.131085416C>A , CM000671.1:g.131085416C>A	GRCh37
NC_000009.10:g.130125237C>A	NCBI36
NG_042101.1:g.5630C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300452.8:c.192C>A MANE Select	ENSP00000300452.3:p.Pro64=
ENST00000300452.7:c.192C>A	ENSP00000300452.3:p.Pro64=
ENST00000372875.3:c.192C>A	ENSP00000361966.3:p.Pro64=
ENST00000608951.5:c.192C>A	ENSP00000476323.1:p.Pro64=
ENST00000609948.1:c.192C>A	ENSP00000477292.1:p.Pro64=
NM_001305942.1:c.192C>A	NP_001292871.1:p.Pro64=
NM_016035.3:c.192C>A	NP_057119.2:p.Pro64=
NM_016035.4:c.192C>A	NP_057119.2:p.Pro64=
XM_011518761.1:c.192C>A	XP_011517063.1:p.Pro64=
XR_929805.1:n.538C>A
XM_017014792.1:c.192C>A	XP_016870281.1:p.Pro64=
XM_017014793.1:c.192C>A	XP_016870282.1:p.Pro64=
XR_001746316.2:n.542C>A
XR_929805.3:n.538C>A
NM_016035.5:c.192C>A MANE Select	NP_057119.3:p.Pro64=
NM_001305942.2:c.192C>A	NP_001292871.2:p.Pro64=