Canonical Allele Identifier: CA5260440

Gene: COQ4

Linked Data

• dbSNP Id: rs762431275
• ExAC: 9:131085451 CG / C
• gnomAD v2: 9-131085451-CG-C
• gnomAD v3: 9-128323172-CG-C
• gnomAD v4: 9-128323172-CG-C
• MyVariant Identifiers: chr9:g.131085452del (hg19) ; chr9:g.128323173del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128323173del , CM000671.2:g.128323173del	GRCh38
NC_000009.11:g.131085452del , CM000671.1:g.131085452del	GRCh37
NC_000009.10:g.130125273del	NCBI36
NG_042101.1:g.5666del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300452.8:c.202+26del MANE Select	ENSP00000300452.3:n.202+26del
ENST00000300452.7:c.202+26del	ENSP00000300452.3:n.202+26del
ENST00000372875.3:c.202+26del	ENSP00000361966.3:n.202+26del
ENST00000608951.5:c.202+26del	ENSP00000476323.1:n.202+26del
ENST00000609948.1:c.228del	ENSP00000477292.1:p.Trp77GlyfsTer16
NM_001305942.1:c.202+26del	NP_001292871.1:n.202+26del
NM_016035.3:c.202+26del	NP_057119.2:n.202+26del
NM_016035.4:c.202+26del	NP_057119.2:n.202+26del
XM_011518761.1:c.202+26del	XP_011517063.1:n.202+26del
XR_929805.1:n.548+26del
XM_017014792.1:c.202+26del	XP_016870281.1:n.202+26del
XM_017014793.1:c.202+26del	XP_016870282.1:n.202+26del
XR_001746316.2:n.552+26del
XR_929805.3:n.548+26del
NM_016035.5:c.202+26del MANE Select	NP_057119.3:n.202+26del
NM_001305942.2:c.202+26del	NP_001292871.2:n.202+26del