Canonical Allele Identifier: CA5260430

Gene: COQ4

Linked Data

• ClinVar Variation Id: 267347
• ClinVar RCV Id: RCV000258061 ; RCV000622739
• dbSNP Id: rs758522459
• ExAC: 9:131085426 G / C
• gnomAD v2: 9-131085426-G-C
• gnomAD v3: 9-128323147-G-C
• gnomAD v4: 9-128323147-G-C
• MyVariant Identifiers: chr9:g.131085426G>C (hg19) ; chr9:g.128323147G>C (hg38)
• PubMed: PMID:16116126 ; PMID:17332895 ; PMID:17485248 ; PMID:18474229 ; PMID:18579827 ; PMID:21540551 ; PMID:21844807 ; PMID:22368301 ; PMID:24270420 ; PMID:25126048 ; PMID:25658047 ; PMID:26185144 ; PMID:28540186

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128323147G>C , CM000671.2:g.128323147G>C	GRCh38
NC_000009.11:g.131085426G>C , CM000671.1:g.131085426G>C	GRCh37
NC_000009.10:g.130125247G>C	NCBI36
NG_042101.1:g.5640G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000300452.8:c.202G>C MANE Select	ENSP00000300452.3:p.Asp68His
ENST00000300452.7:c.202G>C	ENSP00000300452.3:p.Asp68His
ENST00000372875.3:c.202G>C	ENSP00000361966.3:p.Asp68His
ENST00000608951.5:c.202G>C	ENSP00000476323.1:p.Asp68His
ENST00000609948.1:c.202G>C	ENSP00000477292.1:p.Gly68Arg
NM_001305942.1:c.202G>C	NP_001292871.1:p.Gly68Arg
NM_016035.3:c.202G>C	NP_057119.2:p.Asp68His
NM_016035.4:c.202G>C	NP_057119.2:p.Asp68His
XM_011518761.1:c.202G>C	XP_011517063.1:p.Asp68His
XR_929805.1:n.548G>C
XM_017014792.1:c.202G>C	XP_016870281.1:p.Gly68Arg
XM_017014793.1:c.202G>C	XP_016870282.1:p.Gly68Arg
XR_001746316.2:n.552G>C
XR_929805.3:n.548G>C
NM_016035.5:c.202G>C MANE Select	NP_057119.3:p.Asp68His
NM_001305942.2:c.202G>C	NP_001292871.2:p.Gly68Arg