Canonical Allele Identifier: CA2842477126

Gene: COQ8B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692257dup , CM000681.2:g.40692257dup	GRCh38
NC_000019.9:g.41198162dup , CM000681.1:g.41198162dup	GRCh37
NC_000019.8:g.45890002dup	NCBI36
NG_027800.1:g.29630dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.1414dup MANE Select	ENSP00000315118.3:p.Val472GlyfsTer?
ENST00000593724.2:n.3237dup
ENST00000594490.6:c.1336dup	ENSP00000471310.2:p.Val446GlyfsTer?
ENST00000594720.6:c.1414dup	ENSP00000470876.2:p.Val472GlyfsTer?
ENST00000596455.6:n.1706dup
ENST00000601967.6:c.1414dup	ENSP00000470916.2:p.Val472GlyfsTer?
ENST00000676555.1:c.*839dup	ENSP00000503387.1:n.*839dup
ENST00000676578.1:c.*1156dup	ENSP00000504076.1:n.*1156dup
ENST00000676960.1:n.1539dup
ENST00000676962.1:n.1693dup
ENST00000677018.1:c.1414dup	ENSP00000503480.1:p.Val472GlyfsTer?
ENST00000677039.1:n.3617dup
ENST00000677399.1:n.1856dup
ENST00000677496.1:c.1087dup	ENSP00000504773.1:p.Val363GlyfsTer?
ENST00000677517.1:c.1087dup	ENSP00000503519.1:p.Val363GlyfsTer?
ENST00000677633.1:c.*837dup	ENSP00000503645.1:n.*837dup
ENST00000677800.1:c.*4518dup	ENSP00000503794.1:n.*4518dup
ENST00000678057.1:c.*978dup	ENSP00000503762.1:n.*978dup
ENST00000678119.1:n.1608dup
ENST00000678166.1:n.1557dup
ENST00000678312.1:n.1751dup
ENST00000678316.1:c.*837dup	ENSP00000504112.1:n.*837dup
ENST00000678371.1:n.1864dup
ENST00000678404.1:c.1414dup	ENSP00000503944.1:p.Val472GlyfsTer?
ENST00000678419.1:c.1414dup	ENSP00000504085.1:p.Val472GlyfsTer?
ENST00000678433.1:n.1770dup
ENST00000678467.1:c.1414dup	ENSP00000504072.1:p.Val472GlyfsTer?
ENST00000678569.1:c.*399dup	ENSP00000504261.1:n.*399dup
ENST00000678961.1:n.1769dup
ENST00000679002.1:n.1593dup
ENST00000679012.1:c.970dup	ENSP00000504446.1:p.Val324GlyfsTer?
ENST00000679070.1:c.*833dup	ENSP00000503759.1:n.*833dup
ENST00000679130.1:c.1414dup	ENSP00000504845.1:p.Val472GlyfsTer?
ENST00000679315.1:c.*1244dup	ENSP00000503065.1:n.*1244dup
ENST00000243583.10:c.1291dup	ENSP00000243583.5:p.Val431GlyfsTer?
ENST00000324464.7:c.1414dup	ENSP00000315118.3:p.Val472GlyfsTer?
ENST00000593724.1:n.1529dup
NM_001142555.2:c.1291dup	NP_001136027.1:p.Val431GlyfsTer?
NM_024876.3:c.1414dup	NP_079152.3:p.Val472GlyfsTer?
XM_005259270.3:c.1576dup	XP_005259327.2:p.Val526GlyfsTer?
XM_005259271.3:c.1414dup	XP_005259328.1:p.Val472GlyfsTer?
XM_005259272.3:c.1414dup	XP_005259329.1:p.Val472GlyfsTer?
XM_005259273.3:c.1414dup	XP_005259330.1:p.Val472GlyfsTer?
XM_006723392.2:c.1414dup	XP_006723455.1:p.Val472GlyfsTer?
XM_006723393.2:c.1414dup	XP_006723456.1:p.Val472GlyfsTer?
XM_011527334.1:c.1414dup	XP_011525636.1:p.Val472GlyfsTer?
XM_011527335.1:c.1273dup	XP_011525637.1:p.Val425GlyfsTer?
XM_011527336.1:c.1444dup	XP_011525638.1:p.Val482GlyfsTer?
XM_011527337.1:c.1414dup	XP_011525639.1:p.Val472GlyfsTer?
XM_011527338.1:c.1414dup	XP_011525640.1:p.Val472GlyfsTer?
NM_024876.4:c.1414dup MANE Select	NP_079152.3:p.Val472GlyfsTer?
NM_001142555.3:c.1291dup	NP_001136027.1:p.Val431GlyfsTer?