Canonical Allele Identifier: CA2841844153

Gene: COQ8B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40703771dup , CM000681.2:g.40703771dup	GRCh38
NC_000019.9:g.41209676dup , CM000681.1:g.41209676dup	GRCh37
NC_000019.8:g.45901516dup	NCBI36
NG_027800.1:g.18117dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.663dup MANE Select	ENSP00000315118.3:p.Gln222AlafsTer?
ENST00000593724.2:n.393-147dup
ENST00000594490.6:c.585dup	ENSP00000471310.2:p.Gln196AlafsTer?
ENST00000594720.6:c.663dup	ENSP00000470876.2:p.Gln222AlafsTer?
ENST00000596455.6:n.955dup
ENST00000601967.6:c.663dup	ENSP00000470916.2:p.Gln222AlafsTer?
ENST00000676555.1:c.663dup	ENSP00000503387.1:p.Gln222AlafsTer?
ENST00000676578.1:c.*405dup	ENSP00000504076.1:n.*405dup
ENST00000676960.1:n.788dup
ENST00000676962.1:n.942dup
ENST00000677018.1:c.663dup	ENSP00000503480.1:p.Gln222AlafsTer?
ENST00000677039.1:n.718dup
ENST00000677399.1:n.1105dup
ENST00000677496.1:c.336dup	ENSP00000504773.1:p.Gln113AlafsTer?
ENST00000677517.1:c.336dup	ENSP00000503519.1:p.Gln113AlafsTer?
ENST00000677633.1:c.*86dup	ENSP00000503645.1:n.*86dup
ENST00000677800.1:c.*3767dup	ENSP00000503794.1:n.*3767dup
ENST00000678057.1:c.*227dup	ENSP00000503762.1:n.*227dup
ENST00000678119.1:n.857dup
ENST00000678166.1:n.861-147dup
ENST00000678312.1:n.1000dup
ENST00000678316.1:c.*86dup	ENSP00000504112.1:n.*86dup
ENST00000678371.1:n.1021dup
ENST00000678404.1:c.663dup	ENSP00000503944.1:p.Gln222AlafsTer?
ENST00000678419.1:c.663dup	ENSP00000504085.1:p.Gln222AlafsTer?
ENST00000678433.1:n.1023dup
ENST00000678467.1:c.663dup	ENSP00000504072.1:p.Gln222AlafsTer?
ENST00000678569.1:c.663dup	ENSP00000504261.1:p.Gln222AlafsTer?
ENST00000678961.1:n.846dup
ENST00000679002.1:n.842dup
ENST00000679012.1:c.219dup	ENSP00000504446.1:p.Gln74AlafsTer?
ENST00000679070.1:c.*86dup	ENSP00000503759.1:n.*86dup
ENST00000679130.1:c.663dup	ENSP00000504845.1:p.Gln222AlafsTer?
ENST00000679315.1:c.*493dup	ENSP00000503065.1:n.*493dup
ENST00000243583.10:c.540dup	ENSP00000243583.5:p.Gln181AlafsTer?
ENST00000324464.7:c.663dup	ENSP00000315118.3:p.Gln222AlafsTer?
ENST00000595254.5:c.336dup	ENSP00000470894.1:p.Gln113AlafsTer?
ENST00000596455.5:n.783dup
ENST00000599643.5:c.336-147dup	ENSP00000471192.1:n.336-147dup
ENST00000601304.5:c.*437dup	ENSP00000472519.1:n.*437dup
ENST00000601967.5:c.663dup	ENSP00000470916.1:p.Gln222AlafsTer?
NM_001142555.2:c.540dup	NP_001136027.1:p.Gln181AlafsTer?
NM_024876.3:c.663dup	NP_079152.3:p.Gln222AlafsTer?
XM_005259270.3:c.825dup	XP_005259327.2:p.Gln276AlafsTer?
XM_005259271.3:c.663dup	XP_005259328.1:p.Gln222AlafsTer?
XM_005259272.3:c.663dup	XP_005259329.1:p.Gln222AlafsTer?
XM_005259273.3:c.663dup	XP_005259330.1:p.Gln222AlafsTer?
XM_006723392.2:c.663dup	XP_006723455.1:p.Gln222AlafsTer?
XM_006723393.2:c.663dup	XP_006723456.1:p.Gln222AlafsTer?
XM_011527334.1:c.663dup	XP_011525636.1:p.Gln222AlafsTer?
XM_011527335.1:c.577-147dup	XP_011525637.1:n.577-147dup
XM_011527336.1:c.693dup	XP_011525638.1:p.Gln232AlafsTer?
XM_011527337.1:c.663dup	XP_011525639.1:p.Gln222AlafsTer?
XM_011527338.1:c.663dup	XP_011525640.1:p.Gln222AlafsTer?
NM_024876.4:c.663dup MANE Select	NP_079152.3:p.Gln222AlafsTer?
NM_001142555.3:c.540dup	NP_001136027.1:p.Gln181AlafsTer?