Canonical Allele Identifier: CA375017575

Gene: COQ4

Linked Data

• gnomAD v4: 9-128323126-C-A
• MyVariant Identifiers: chr9:g.131085405C>A (hg19) ; chr9:g.128323126C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128323126C>A , CM000671.2:g.128323126C>A	GRCh38
NC_000009.11:g.131085405C>A , CM000671.1:g.131085405C>A	GRCh37
NC_000009.10:g.130125226C>A	NCBI36
NG_042101.1:g.5619C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300452.8:c.181C>A MANE Select	ENSP00000300452.3:p.Leu61Ile
ENST00000300452.7:c.181C>A	ENSP00000300452.3:p.Leu61Ile
ENST00000372875.3:c.181C>A	ENSP00000361966.3:p.Leu61Ile
ENST00000608951.5:c.181C>A	ENSP00000476323.1:p.Leu61Ile
ENST00000609948.1:c.181C>A	ENSP00000477292.1:p.Leu61Ile
NM_001305942.1:c.181C>A	NP_001292871.1:p.Leu61Ile
NM_016035.3:c.181C>A	NP_057119.2:p.Leu61Ile
NM_016035.4:c.181C>A	NP_057119.2:p.Leu61Ile
XM_011518761.1:c.181C>A	XP_011517063.1:p.Leu61Ile
XR_929805.1:n.527C>A
XM_017014792.1:c.181C>A	XP_016870281.1:p.Leu61Ile
XM_017014793.1:c.181C>A	XP_016870282.1:p.Leu61Ile
XR_001746316.2:n.531C>A
XR_929805.3:n.527C>A
NM_016035.5:c.181C>A MANE Select	NP_057119.3:p.Leu61Ile
NM_001305942.2:c.181C>A	NP_001292871.2:p.Leu61Ile