Canonical Allele Identifier: CA5260510

Gene: COQ4

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128325783C>T , CM000671.2:g.128325783C>T	GRCh38
NC_000009.11:g.131088062C>T , CM000671.1:g.131088062C>T	GRCh37
NC_000009.10:g.130127883C>T	NCBI36
NG_042101.1:g.8276C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_016035.5:c.304C>T MANE Select	NP_057119.3:p.Arg102Cys
ENST00000300452.8:c.304C>T MANE Select	ENSP00000300452.3:p.Arg102Cys
NM_001305942.1:c.207C>T	NP_001292871.1:p.Ser69=
NM_001305942.2:c.207C>T	NP_001292871.2:p.Ser69=
NM_016035.3:c.304C>T	NP_057119.2:p.Arg102Cys
NM_016035.4:c.304C>T	NP_057119.2:p.Arg102Cys
ENST00000300452.7:c.304C>T	ENSP00000300452.3:p.Arg102Cys
ENST00000372875.3:c.304C>T	ENSP00000361966.3:p.Arg102Cys
XM_011518761.1:c.304C>T	XP_011517063.1:p.Arg102Cys
XM_017014792.1:c.207C>T	XP_016870281.1:p.Ser69=
XM_017014793.1:c.207C>T	XP_016870282.1:p.Ser69=
XR_001746316.2:n.557C>T
XR_929805.1:n.650C>T
XR_929805.3:n.650C>T