Canonical Allele Identifier: CA375023559

Gene: COQ4

Genomic Alleles

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

Transcript Alleles

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