Canonical Allele Identifier: CA9450032

Gene: COQ8B

Linked Data

• ClinVar Variation Id: 1708373
• ClinVar RCV Id: RCV002287746 ; RCV003408211
• dbSNP Id: rs759968901
• ExAC: 19:41198235 T / TC
• gnomAD v2: 19-41198235-T-TC
• gnomAD v3: 19-40692330-T-TC
• gnomAD v4: 19-40692330-T-TC
• MyVariant Identifiers: chr19:g.41198235_41198236insC (hg19) ; chr19:g.40692330_40692331insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692335dup , CM000681.2:g.40692335dup	GRCh38
NC_000019.9:g.41198240dup , CM000681.1:g.41198240dup	GRCh37
NC_000019.8:g.45890080dup	NCBI36
NG_027800.1:g.29555dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.1339dup MANE Select	ENSP00000315118.3:p.Glu447GlyfsTer10
ENST00000593724.2:n.3162dup
ENST00000594490.6:c.1261dup	ENSP00000471310.2:p.Glu421GlyfsTer10
ENST00000594720.6:c.1339dup	ENSP00000470876.2:p.Glu447GlyfsTer10
ENST00000596455.6:n.1631dup
ENST00000601967.6:c.1339dup	ENSP00000470916.2:p.Glu447GlyfsTer10
ENST00000676555.1:c.*764dup	ENSP00000503387.1:n.*764dup
ENST00000676578.1:c.*1081dup	ENSP00000504076.1:n.*1081dup
ENST00000676960.1:n.1464dup
ENST00000676962.1:n.1618dup
ENST00000677018.1:c.1339dup	ENSP00000503480.1:p.Glu447GlyfsTer10
ENST00000677039.1:n.3542dup
ENST00000677399.1:n.1781dup
ENST00000677496.1:c.1012dup	ENSP00000504773.1:p.Glu338GlyfsTer10
ENST00000677517.1:c.1012dup	ENSP00000503519.1:p.Glu338GlyfsTer10
ENST00000677633.1:c.*762dup	ENSP00000503645.1:n.*762dup
ENST00000677800.1:c.*4443dup	ENSP00000503794.1:n.*4443dup
ENST00000678057.1:c.*903dup	ENSP00000503762.1:n.*903dup
ENST00000678119.1:n.1533dup
ENST00000678166.1:n.1482dup
ENST00000678312.1:n.1676dup
ENST00000678316.1:c.*762dup	ENSP00000504112.1:n.*762dup
ENST00000678371.1:n.1789dup
ENST00000678404.1:c.1339dup	ENSP00000503944.1:p.Glu447GlyfsTer10
ENST00000678419.1:c.1339dup	ENSP00000504085.1:p.Glu447GlyfsTer10
ENST00000678433.1:n.1695dup
ENST00000678467.1:c.1339dup	ENSP00000504072.1:p.Glu447GlyfsTer10
ENST00000678569.1:c.*324dup	ENSP00000504261.1:n.*324dup
ENST00000678961.1:n.1694dup
ENST00000679002.1:n.1518dup
ENST00000679012.1:c.895dup	ENSP00000504446.1:p.Glu299GlyfsTer10
ENST00000679070.1:c.*758dup	ENSP00000503759.1:n.*758dup
ENST00000679130.1:c.1339dup	ENSP00000504845.1:p.Glu447GlyfsTer10
ENST00000679315.1:c.*1169dup	ENSP00000503065.1:n.*1169dup
ENST00000243583.10:c.1216dup	ENSP00000243583.5:p.Glu406GlyfsTer10
ENST00000324464.7:c.1339dup	ENSP00000315118.3:p.Glu447GlyfsTer10
ENST00000593724.1:n.1454dup
NM_001142555.2:c.1216dup	NP_001136027.1:p.Glu406GlyfsTer10
NM_024876.3:c.1339dup	NP_079152.3:p.Glu447GlyfsTer10
XM_005259270.3:c.1501dup	XP_005259327.2:p.Glu501GlyfsTer10
XM_005259271.3:c.1339dup	XP_005259328.1:p.Glu447GlyfsTer10
XM_005259272.3:c.1339dup	XP_005259329.1:p.Glu447GlyfsTer10
XM_005259273.3:c.1339dup	XP_005259330.1:p.Glu447GlyfsTer10
XM_006723392.2:c.1339dup	XP_006723455.1:p.Glu447GlyfsTer10
XM_006723393.2:c.1339dup	XP_006723456.1:p.Glu447GlyfsTer10
XM_011527334.1:c.1339dup	XP_011525636.1:p.Glu447GlyfsTer10
XM_011527335.1:c.1198dup	XP_011525637.1:p.Glu400GlyfsTer10
XM_011527336.1:c.1369dup	XP_011525638.1:p.Glu457GlyfsTer10
XM_011527337.1:c.1339dup	XP_011525639.1:p.Glu447GlyfsTer10
XM_011527338.1:c.1339dup	XP_011525640.1:p.Glu447GlyfsTer10
NM_024876.4:c.1339dup MANE Select	NP_079152.3:p.Glu447GlyfsTer10
NM_001142555.3:c.1216dup	NP_001136027.1:p.Glu406GlyfsTer10