Canonical Allele Identifier: CA375023560

Gene: COQ4

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128332867T>A , CM000671.2:g.128332867T>A	GRCh38
NC_000009.11:g.131095146T>A , CM000671.1:g.131095146T>A	GRCh37
NC_000009.10:g.130134967T>A	NCBI36
NG_042101.1:g.15360T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300452.8:c.550T>A MANE Select	ENSP00000300452.3:p.Trp184Arg
ENST00000300452.7:c.550T>A	ENSP00000300452.3:p.Trp184Arg
ENST00000461102.1:n.2456T>A
NM_001305942.1:c.*3-607T>A	NP_001292871.1:n.*3-607T>A
NM_016035.3:c.550T>A	NP_057119.2:p.Trp184Arg
NM_016035.4:c.550T>A	NP_057119.2:p.Trp184Arg
XR_929805.1:n.766T>A
XM_017014792.1:c.*20T>A	XP_016870281.1:n.*20T>A
XR_001746316.2:n.803T>A
XR_929805.3:n.766T>A
NM_016035.5:c.550T>A MANE Select	NP_057119.3:p.Trp184Arg
NM_001305942.2:c.*3-607T>A	NP_001292871.2:n.*3-607T>A