Canonical Allele Identifier: CA2691895753

Gene: COQ4

Linked Data

• gnomAD v4: 9-128323164-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128323164C>G , CM000671.2:g.128323164C>G	GRCh38
NC_000009.11:g.131085443C>G , CM000671.1:g.131085443C>G	GRCh37
NC_000009.10:g.130125264C>G	NCBI36
NG_042101.1:g.5657C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300452.8:c.202+17C>G MANE Select	ENSP00000300452.3:n.202+17C>G
ENST00000300452.7:c.202+17C>G	ENSP00000300452.3:n.202+17C>G
ENST00000372875.3:c.202+17C>G	ENSP00000361966.3:n.202+17C>G
ENST00000608951.5:c.202+17C>G	ENSP00000476323.1:n.202+17C>G
ENST00000609948.1:c.219C>G	ENSP00000477292.1:p.Ala73=
NM_001305942.1:c.202+17C>G	NP_001292871.1:n.202+17C>G
NM_016035.3:c.202+17C>G	NP_057119.2:n.202+17C>G
NM_016035.4:c.202+17C>G	NP_057119.2:n.202+17C>G
XM_011518761.1:c.202+17C>G	XP_011517063.1:n.202+17C>G
XR_929805.1:n.548+17C>G
XM_017014792.1:c.202+17C>G	XP_016870281.1:n.202+17C>G
XM_017014793.1:c.202+17C>G	XP_016870282.1:n.202+17C>G
XR_001746316.2:n.552+17C>G
XR_929805.3:n.548+17C>G
NM_016035.5:c.202+17C>G MANE Select	NP_057119.3:n.202+17C>G
NM_001305942.2:c.202+17C>G	NP_001292871.2:n.202+17C>G