Canonical Allele Identifier: CA9450005

Gene: COQ8B

Linked Data

• ClinVar Variation Id: 1932792
• ClinVar RCV Id: RCV002649512
• dbSNP Id: rs776070003
• ExAC: 19:41198152 G / T
• gnomAD v2: 19-41198152-G-T
• gnomAD v3: 19-40692247-G-T
• gnomAD v4: 19-40692247-G-T
• MyVariant Identifiers: chr19:g.41198152G>T (hg19) ; chr19:g.40692247G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692247G>T , CM000681.2:g.40692247G>T	GRCh38
NC_000019.9:g.41198152G>T , CM000681.1:g.41198152G>T	GRCh37
NC_000019.8:g.45889992G>T	NCBI36
NG_027800.1:g.29639C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000324464.8:c.1423C>A MANE Select	ENSP00000315118.3:p.Arg475=
ENST00000593724.2:n.3246C>A
ENST00000594490.6:c.1345C>A	ENSP00000471310.2:p.Arg449=
ENST00000594720.6:c.1423C>A	ENSP00000470876.2:p.Arg475=
ENST00000596455.6:n.1715C>A
ENST00000601967.6:c.1423C>A	ENSP00000470916.2:p.Arg475=
ENST00000676555.1:c.*848C>A	ENSP00000503387.1:n.*848C>A
ENST00000676578.1:c.*1165C>A	ENSP00000504076.1:n.*1165C>A
ENST00000676960.1:n.1548C>A
ENST00000676962.1:n.1702C>A
ENST00000677018.1:c.1423C>A	ENSP00000503480.1:p.Arg475=
ENST00000677039.1:n.3626C>A
ENST00000677399.1:n.1865C>A
ENST00000677496.1:c.1096C>A	ENSP00000504773.1:p.Arg366=
ENST00000677517.1:c.1096C>A	ENSP00000503519.1:p.Arg366=
ENST00000677633.1:c.*846C>A	ENSP00000503645.1:n.*846C>A
ENST00000677800.1:c.*4527C>A	ENSP00000503794.1:n.*4527C>A
ENST00000678057.1:c.*987C>A	ENSP00000503762.1:n.*987C>A
ENST00000678119.1:n.1617C>A
ENST00000678166.1:n.1566C>A
ENST00000678312.1:n.1760C>A
ENST00000678316.1:c.*846C>A	ENSP00000504112.1:n.*846C>A
ENST00000678371.1:n.1873C>A
ENST00000678404.1:c.1423C>A	ENSP00000503944.1:p.Arg475=
ENST00000678419.1:c.1423C>A	ENSP00000504085.1:p.Arg475=
ENST00000678433.1:n.1779C>A
ENST00000678467.1:c.1423C>A	ENSP00000504072.1:p.Arg475=
ENST00000678569.1:c.*408C>A	ENSP00000504261.1:n.*408C>A
ENST00000678961.1:n.1778C>A
ENST00000679002.1:n.1602C>A
ENST00000679012.1:c.979C>A	ENSP00000504446.1:p.Arg327=
ENST00000679070.1:c.*842C>A	ENSP00000503759.1:n.*842C>A
ENST00000679130.1:c.1423C>A	ENSP00000504845.1:p.Arg475=
ENST00000679315.1:c.*1253C>A	ENSP00000503065.1:n.*1253C>A
ENST00000243583.10:c.1300C>A	ENSP00000243583.5:p.Arg434=
ENST00000324464.7:c.1423C>A	ENSP00000315118.3:p.Arg475=
ENST00000593724.1:n.1538C>A
NM_001142555.2:c.1300C>A	NP_001136027.1:p.Arg434=
NM_024876.3:c.1423C>A	NP_079152.3:p.Arg475=
XM_005259270.3:c.1585C>A	XP_005259327.2:p.Arg529=
XM_005259271.3:c.1423C>A	XP_005259328.1:p.Arg475=
XM_005259272.3:c.1423C>A	XP_005259329.1:p.Arg475=
XM_005259273.3:c.1423C>A	XP_005259330.1:p.Arg475=
XM_006723392.2:c.1423C>A	XP_006723455.1:p.Arg475=
XM_006723393.2:c.1423C>A	XP_006723456.1:p.Arg475=
XM_011527334.1:c.1423C>A	XP_011525636.1:p.Arg475=
XM_011527335.1:c.1282C>A	XP_011525637.1:p.Arg428=
XM_011527336.1:c.1453C>A	XP_011525638.1:p.Arg485=
XM_011527337.1:c.1423C>A	XP_011525639.1:p.Arg475=
XM_011527338.1:c.1423C>A	XP_011525640.1:p.Arg475=
NM_024876.4:c.1423C>A MANE Select	NP_079152.3:p.Arg475=
NM_001142555.3:c.1300C>A	NP_001136027.1:p.Arg434=