Canonical Allele Identifier: CA199142

Gene: COQ4

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128332171C>T , CM000671.2:g.128332171C>T	GRCh38
NC_000009.11:g.131094450C>T , CM000671.1:g.131094450C>T	GRCh37
NC_000009.10:g.130134271C>T	NCBI36
NG_042101.1:g.14664C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300452.8:c.421C>T MANE Select	ENSP00000300452.3:p.Arg141Ter
ENST00000300452.7:c.421C>T	ENSP00000300452.3:p.Arg141Ter
ENST00000461102.1:n.1760C>T
NM_001305942.1:c.*3-1303C>T	NP_001292871.1:n.*3-1303C>T
NM_016035.3:c.421C>T	NP_057119.2:p.Arg141Ter
NM_016035.4:c.421C>T	NP_057119.2:p.Arg141Ter
XR_929805.1:n.749-679C>T
XM_017014792.1:c.*3-679C>T	XP_016870281.1:n.*3-679C>T
XR_001746316.2:n.674C>T
XR_929805.3:n.749-679C>T
NM_016035.5:c.421C>T MANE Select	NP_057119.3:p.Arg141Ter
NM_001305942.2:c.*3-1303C>T	NP_001292871.2:n.*3-1303C>T