Canonical Allele Identifier: CA9450378

Gene: COQ8B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40705138C>T , CM000681.2:g.40705138C>T	GRCh38
NC_000019.9:g.41211043C>T , CM000681.1:g.41211043C>T	GRCh37
NC_000019.8:g.45902883C>T	NCBI36
NG_027800.1:g.16748G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.534G>A MANE Select	ENSP00000315118.3:p.Arg178=
ENST00000593724.2:n.393-1516G>A
ENST00000594490.6:c.456G>A	ENSP00000471310.2:p.Arg152=
ENST00000594720.6:c.534G>A	ENSP00000470876.2:p.Arg178=
ENST00000596455.6:n.826G>A
ENST00000601967.6:c.534G>A	ENSP00000470916.2:p.Arg178=
ENST00000676555.1:c.534G>A	ENSP00000503387.1:p.Arg178=
ENST00000676578.1:c.*276G>A	ENSP00000504076.1:n.*276G>A
ENST00000676960.1:n.659G>A
ENST00000676962.1:n.813G>A
ENST00000677018.1:c.534G>A	ENSP00000503480.1:p.Arg178=
ENST00000677039.1:n.589G>A
ENST00000677399.1:n.976G>A
ENST00000677496.1:c.207G>A	ENSP00000504773.1:p.Arg69=
ENST00000677517.1:c.207G>A	ENSP00000503519.1:p.Arg69=
ENST00000677633.1:c.527G>A	ENSP00000503645.1:p.Gly176Glu
ENST00000677800.1:c.*3638G>A	ENSP00000503794.1:n.*3638G>A
ENST00000678057.1:c.*98G>A	ENSP00000503762.1:n.*98G>A
ENST00000678119.1:n.728G>A
ENST00000678166.1:n.818G>A
ENST00000678312.1:n.871G>A
ENST00000678316.1:c.509G>A	ENSP00000504112.1:p.Gly170Glu
ENST00000678371.1:n.892G>A
ENST00000678404.1:c.534G>A	ENSP00000503944.1:p.Arg178=
ENST00000678419.1:c.534G>A	ENSP00000504085.1:p.Arg178=
ENST00000678433.1:n.894G>A
ENST00000678467.1:c.534G>A	ENSP00000504072.1:p.Arg178=
ENST00000678569.1:c.534G>A	ENSP00000504261.1:p.Arg178=
ENST00000678961.1:n.717G>A
ENST00000679002.1:n.713G>A
ENST00000679012.1:c.90G>A	ENSP00000504446.1:p.Arg30=
ENST00000679070.1:c.200G>A	ENSP00000503759.1:p.Gly67Glu
ENST00000679130.1:c.534G>A	ENSP00000504845.1:p.Arg178=
ENST00000679315.1:c.*364G>A	ENSP00000503065.1:n.*364G>A
ENST00000243583.10:c.411G>A	ENSP00000243583.5:p.Arg137=
ENST00000324464.7:c.534G>A	ENSP00000315118.3:p.Arg178=
ENST00000595254.5:c.207G>A	ENSP00000470894.1:p.Arg69=
ENST00000596455.5:n.654G>A
ENST00000599643.5:c.293G>A	ENSP00000471192.1:p.Gly98Glu
ENST00000600080.5:c.200G>A	ENSP00000473017.1:p.Gly67Glu
ENST00000601304.5:c.*308G>A	ENSP00000472519.1:n.*308G>A
ENST00000601451.5:n.979G>A
ENST00000601967.5:c.534G>A	ENSP00000470916.1:p.Arg178=
NM_001142555.2:c.411G>A	NP_001136027.1:p.Arg137=
NM_024876.3:c.534G>A	NP_079152.3:p.Arg178=
XM_005259270.3:c.696G>A	XP_005259327.2:p.Arg232=
XM_005259271.3:c.534G>A	XP_005259328.1:p.Arg178=
XM_005259272.3:c.534G>A	XP_005259329.1:p.Arg178=
XM_005259273.3:c.534G>A	XP_005259330.1:p.Arg178=
XM_006723392.2:c.534G>A	XP_006723455.1:p.Arg178=
XM_006723393.2:c.534G>A	XP_006723456.1:p.Arg178=
XM_011527334.1:c.534G>A	XP_011525636.1:p.Arg178=
XM_011527335.1:c.534G>A	XP_011525637.1:p.Arg178=
XM_011527336.1:c.564G>A	XP_011525638.1:p.Arg188=
XM_011527337.1:c.534G>A	XP_011525639.1:p.Arg178=
XM_011527338.1:c.534G>A	XP_011525640.1:p.Arg178=
NM_024876.4:c.534G>A MANE Select	NP_079152.3:p.Arg178=
NM_001142555.3:c.411G>A	NP_001136027.1:p.Arg137=