Canonical Allele Identifier: CA375017679

Gene: COQ4

Linked Data

• gnomAD v4: 9-128323141-C-T
• MyVariant Identifiers: chr9:g.131085420C>T (hg19) ; chr9:g.128323141C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128323141C>T , CM000671.2:g.128323141C>T	GRCh38
NC_000009.11:g.131085420C>T , CM000671.1:g.131085420C>T	GRCh37
NC_000009.10:g.130125241C>T	NCBI36
NG_042101.1:g.5634C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300452.8:c.196C>T MANE Select	ENSP00000300452.3:p.Arg66Cys
ENST00000300452.7:c.196C>T	ENSP00000300452.3:p.Arg66Cys
ENST00000372875.3:c.196C>T	ENSP00000361966.3:p.Arg66Cys
ENST00000608951.5:c.196C>T	ENSP00000476323.1:p.Arg66Cys
ENST00000609948.1:c.196C>T	ENSP00000477292.1:p.Arg66Cys
NM_001305942.1:c.196C>T	NP_001292871.1:p.Arg66Cys
NM_016035.3:c.196C>T	NP_057119.2:p.Arg66Cys
NM_016035.4:c.196C>T	NP_057119.2:p.Arg66Cys
XM_011518761.1:c.196C>T	XP_011517063.1:p.Arg66Cys
XR_929805.1:n.542C>T
XM_017014792.1:c.196C>T	XP_016870281.1:p.Arg66Cys
XM_017014793.1:c.196C>T	XP_016870282.1:p.Arg66Cys
XR_001746316.2:n.546C>T
XR_929805.3:n.542C>T
NM_016035.5:c.196C>T MANE Select	NP_057119.3:p.Arg66Cys
NM_001305942.2:c.196C>T	NP_001292871.2:p.Arg66Cys