Canonical Allele Identifier: CA2957530719
Gene: COQ8B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40703746dup , CM000681.2:g.40703746dup GRCh38
NC_000019.9:g.41209651dup , CM000681.1:g.41209651dup GRCh37
NC_000019.8:g.45901491dup NCBI36
NG_027800.1:g.18142dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000324464.8:c.688dup MANE Select ENSP00000315118.3:p.Asp230GlyfsTer?
ENST00000593724.2:n.393-122dup
ENST00000594490.6:c.610dup ENSP00000471310.2:p.Asp204GlyfsTer?
ENST00000594720.6:c.688dup ENSP00000470876.2:p.Asp230GlyfsTer?
ENST00000596455.6:n.980dup
ENST00000601967.6:c.688dup ENSP00000470916.2:p.Asp230GlyfsTer?
ENST00000676555.1:c.688dup ENSP00000503387.1:p.Asp230GlyfsTer?
ENST00000676578.1:c.*430dup ENSP00000504076.1:n.*430dup
ENST00000676960.1:n.813dup
ENST00000676962.1:n.967dup
ENST00000677018.1:c.688dup ENSP00000503480.1:p.Asp230GlyfsTer?
ENST00000677039.1:n.743dup
ENST00000677399.1:n.1130dup
ENST00000677496.1:c.361dup ENSP00000504773.1:p.Asp121GlyfsTer?
ENST00000677517.1:c.361dup ENSP00000503519.1:p.Asp121GlyfsTer?
ENST00000677633.1:c.*111dup ENSP00000503645.1:n.*111dup
ENST00000677800.1:c.*3792dup ENSP00000503794.1:n.*3792dup
ENST00000678057.1:c.*252dup ENSP00000503762.1:n.*252dup
ENST00000678119.1:n.882dup
ENST00000678166.1:n.861-122dup
ENST00000678312.1:n.1025dup
ENST00000678316.1:c.*111dup ENSP00000504112.1:n.*111dup
ENST00000678371.1:n.1046dup
ENST00000678404.1:c.688dup ENSP00000503944.1:p.Asp230GlyfsTer?
ENST00000678419.1:c.688dup ENSP00000504085.1:p.Asp230GlyfsTer?
ENST00000678433.1:n.1048dup
ENST00000678467.1:c.688dup ENSP00000504072.1:p.Asp230GlyfsTer?
ENST00000678569.1:c.688dup ENSP00000504261.1:p.Asp230GlyfsTer?
ENST00000678961.1:n.871dup
ENST00000679002.1:n.867dup
ENST00000679012.1:c.244dup ENSP00000504446.1:p.Asp82GlyfsTer?
ENST00000679070.1:c.*111dup ENSP00000503759.1:n.*111dup
ENST00000679130.1:c.688dup ENSP00000504845.1:p.Asp230GlyfsTer?
ENST00000679315.1:c.*518dup ENSP00000503065.1:n.*518dup
ENST00000243583.10:c.565dup ENSP00000243583.5:p.Asp189GlyfsTer?
ENST00000324464.7:c.688dup ENSP00000315118.3:p.Asp230GlyfsTer?
ENST00000595254.5:c.361dup ENSP00000470894.1:p.Asp121GlyfsTer?
ENST00000596455.5:n.808dup
ENST00000599643.5:c.336-122dup ENSP00000471192.1:n.336-122dup
ENST00000601304.5:c.*462dup ENSP00000472519.1:n.*462dup
ENST00000601967.5:c.688dup ENSP00000470916.1:p.Asp230GlyfsTer?
NM_001142555.2:c.565dup NP_001136027.1:p.Asp189GlyfsTer?
NM_024876.3:c.688dup NP_079152.3:p.Asp230GlyfsTer?
XM_005259270.3:c.850dup XP_005259327.2:p.Asp284GlyfsTer?
XM_005259271.3:c.688dup XP_005259328.1:p.Asp230GlyfsTer?
XM_005259272.3:c.688dup XP_005259329.1:p.Asp230GlyfsTer?
XM_005259273.3:c.688dup XP_005259330.1:p.Asp230GlyfsTer?
XM_006723392.2:c.688dup XP_006723455.1:p.Asp230GlyfsTer?
XM_006723393.2:c.688dup XP_006723456.1:p.Asp230GlyfsTer?
XM_011527334.1:c.688dup XP_011525636.1:p.Asp230GlyfsTer?
XM_011527335.1:c.577-122dup XP_011525637.1:n.577-122dup
XM_011527336.1:c.718dup XP_011525638.1:p.Asp240GlyfsTer?
XM_011527337.1:c.688dup XP_011525639.1:p.Asp230GlyfsTer?
XM_011527338.1:c.688dup XP_011525640.1:p.Asp230GlyfsTer?
NM_024876.4:c.688dup MANE Select NP_079152.3:p.Asp230GlyfsTer?
NM_001142555.3:c.565dup NP_001136027.1:p.Asp189GlyfsTer?