Canonical Allele Identifier: CA200342297

Gene: COQ4

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128332894C>T , CM000671.2:g.128332894C>T	GRCh38
NC_000009.11:g.131095173C>T , CM000671.1:g.131095173C>T	GRCh37
NC_000009.10:g.130134994C>T	NCBI36
NG_042101.1:g.15387C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_016035.5:c.577C>T MANE Select	NP_057119.3:p.Pro193Ser
ENST00000300452.8:c.577C>T MANE Select	ENSP00000300452.3:p.Pro193Ser
NM_001305942.1:c.*3-580C>T	NP_001292871.1:n.*3-580C>T
NM_001305942.2:c.*3-580C>T	NP_001292871.2:n.*3-580C>T
NM_016035.3:c.577C>T	NP_057119.2:p.Pro193Ser
NM_016035.4:c.577C>T	NP_057119.2:p.Pro193Ser
ENST00000300452.7:c.577C>T	ENSP00000300452.3:p.Pro193Ser
ENST00000461102.1:n.2483C>T
XM_017014792.1:c.*47C>T	XP_016870281.1:n.*47C>T
XR_001746316.2:n.830C>T
XR_929805.1:n.793C>T
XR_929805.3:n.793C>T