Canonical Allele Identifier: CA2585174518

Gene: COQ8B

Linked Data

• gnomAD v4: 19-40703761-T-TGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40703762_40703763insAGG , CM000681.2:g.40703762_40703763insAGG	GRCh38
NC_000019.9:g.41209667_41209668insAGG , CM000681.1:g.41209667_41209668insAGG	GRCh37
NC_000019.8:g.45901507_45901508insAGG	NCBI36
NG_027800.1:g.18124_18125insCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.670_671insCTC MANE Select	ENSP00000315118.3:p.Val223_His224insPro
ENST00000593724.2:n.393-140_393-139insCTC
ENST00000594490.6:c.592_593insCTC	ENSP00000471310.2:p.Val197_His198insPro
ENST00000594720.6:c.670_671insCTC	ENSP00000470876.2:p.Val223_His224insPro
ENST00000596455.6:n.962_963insCTC
ENST00000601967.6:c.670_671insCTC	ENSP00000470916.2:p.Val223_His224insPro
ENST00000676555.1:c.670_671insCTC	ENSP00000503387.1:p.Val223_His224insPro
ENST00000676578.1:c.*412_*413insCTC	ENSP00000504076.1:n.*412_*413insCTC
ENST00000676960.1:n.795_796insCTC
ENST00000676962.1:n.949_950insCTC
ENST00000677018.1:c.670_671insCTC	ENSP00000503480.1:p.Val223_His224insPro
ENST00000677039.1:n.725_726insCTC
ENST00000677399.1:n.1112_1113insCTC
ENST00000677496.1:c.343_344insCTC	ENSP00000504773.1:p.Val114_His115insPro
ENST00000677517.1:c.343_344insCTC	ENSP00000503519.1:p.Val114_His115insPro
ENST00000677633.1:c.*93_*94insCTC	ENSP00000503645.1:n.*93_*94insCTC
ENST00000677800.1:c.*3774_*3775insCTC	ENSP00000503794.1:n.*3774_*3775insCTC
ENST00000678057.1:c.*234_*235insCTC	ENSP00000503762.1:n.*234_*235insCTC
ENST00000678119.1:n.864_865insCTC
ENST00000678166.1:n.861-140_861-139insCTC
ENST00000678312.1:n.1007_1008insCTC
ENST00000678316.1:c.*93_*94insCTC	ENSP00000504112.1:n.*93_*94insCTC
ENST00000678371.1:n.1028_1029insCTC
ENST00000678404.1:c.670_671insCTC	ENSP00000503944.1:p.Val223_His224insPro
ENST00000678419.1:c.670_671insCTC	ENSP00000504085.1:p.Val223_His224insPro
ENST00000678433.1:n.1030_1031insCTC
ENST00000678467.1:c.670_671insCTC	ENSP00000504072.1:p.Val223_His224insPro
ENST00000678569.1:c.670_671insCTC	ENSP00000504261.1:p.Val223_His224insPro
ENST00000678961.1:n.853_854insCTC
ENST00000679002.1:n.849_850insCTC
ENST00000679012.1:c.226_227insCTC	ENSP00000504446.1:p.Val75_His76insPro
ENST00000679070.1:c.*93_*94insCTC	ENSP00000503759.1:n.*93_*94insCTC
ENST00000679130.1:c.670_671insCTC	ENSP00000504845.1:p.Val223_His224insPro
ENST00000679315.1:c.*500_*501insCTC	ENSP00000503065.1:n.*500_*501insCTC
ENST00000243583.10:c.547_548insCTC	ENSP00000243583.5:p.Val182_His183insPro
ENST00000324464.7:c.670_671insCTC	ENSP00000315118.3:p.Val223_His224insPro
ENST00000595254.5:c.343_344insCTC	ENSP00000470894.1:p.Val114_His115insPro
ENST00000596455.5:n.790_791insCTC
ENST00000599643.5:c.336-140_336-139insCTC	ENSP00000471192.1:n.336-140_336-139insCTC
ENST00000601304.5:c.*444_*445insCTC	ENSP00000472519.1:n.*444_*445insCTC
ENST00000601967.5:c.670_671insCTC	ENSP00000470916.1:p.Val223_His224insPro
NM_001142555.2:c.547_548insCTC	NP_001136027.1:p.Val182_His183insPro
NM_024876.3:c.670_671insCTC	NP_079152.3:p.Val223_His224insPro
XM_005259270.3:c.832_833insCTC	XP_005259327.2:p.Val277_His278insPro
XM_005259271.3:c.670_671insCTC	XP_005259328.1:p.Val223_His224insPro
XM_005259272.3:c.670_671insCTC	XP_005259329.1:p.Val223_His224insPro
XM_005259273.3:c.670_671insCTC	XP_005259330.1:p.Val223_His224insPro
XM_006723392.2:c.670_671insCTC	XP_006723455.1:p.Val223_His224insPro
XM_006723393.2:c.670_671insCTC	XP_006723456.1:p.Val223_His224insPro
XM_011527334.1:c.670_671insCTC	XP_011525636.1:p.Val223_His224insPro
XM_011527335.1:c.577-140_577-139insCTC	XP_011525637.1:n.577-140_577-139insCTC
XM_011527336.1:c.700_701insCTC	XP_011525638.1:p.Val233_His234insPro
XM_011527337.1:c.670_671insCTC	XP_011525639.1:p.Val223_His224insPro
XM_011527338.1:c.670_671insCTC	XP_011525640.1:p.Val223_His224insPro
NM_024876.4:c.670_671insCTC MANE Select	NP_079152.3:p.Val223_His224insPro
NM_001142555.3:c.547_548insCTC	NP_001136027.1:p.Val182_His183insPro