Canonical Allele Identifier: CA375017694

Gene: COQ4

Linked Data

• dbSNP Id: rs1170314790
• gnomAD v4: 9-128323144-C-G
• MyVariant Identifiers: chr9:g.131085423C>G (hg19) ; chr9:g.128323144C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128323144C>G , CM000671.2:g.128323144C>G	GRCh38
NC_000009.11:g.131085423C>G , CM000671.1:g.131085423C>G	GRCh37
NC_000009.10:g.130125244C>G	NCBI36
NG_042101.1:g.5637C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300452.8:c.199C>G MANE Select	ENSP00000300452.3:p.His67Asp
ENST00000300452.7:c.199C>G	ENSP00000300452.3:p.His67Asp
ENST00000372875.3:c.199C>G	ENSP00000361966.3:p.His67Asp
ENST00000608951.5:c.199C>G	ENSP00000476323.1:p.His67Asp
ENST00000609948.1:c.199C>G	ENSP00000477292.1:p.His67Asp
NM_001305942.1:c.199C>G	NP_001292871.1:p.His67Asp
NM_016035.3:c.199C>G	NP_057119.2:p.His67Asp
NM_016035.4:c.199C>G	NP_057119.2:p.His67Asp
XM_011518761.1:c.199C>G	XP_011517063.1:p.His67Asp
XR_929805.1:n.545C>G
XM_017014792.1:c.199C>G	XP_016870281.1:p.His67Asp
XM_017014793.1:c.199C>G	XP_016870282.1:p.His67Asp
XR_001746316.2:n.549C>G
XR_929805.3:n.545C>G
NM_016035.5:c.199C>G MANE Select	NP_057119.3:p.His67Asp
NM_001305942.2:c.199C>G	NP_001292871.2:p.His67Asp