Canonical Allele Identifier: CA9450571
Gene: COQ8B HGNC NCBI

Linked Data

ClinVar Variation Id: 380045
dbSNP Id: rs11673492

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40714624C>T , CM000681.2:g.40714624C>T GRCh38
NC_000019.9:g.41220529C>T , CM000681.1:g.41220529C>T GRCh37
NC_000019.8:g.45912369C>T NCBI36
NG_012970.1:g.2522C>T
NG_027800.1:g.7262G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000324464.8:c.9G>A MANE Select ENSP00000315118.3:p.Leu3=
ENST00000593724.2:n.101G>A
ENST00000594490.6:c.9G>A ENSP00000471310.2:p.Leu3=
ENST00000594720.6:c.9G>A ENSP00000470876.2:p.Leu3=
ENST00000596455.6:n.158G>A
ENST00000601967.6:c.9G>A ENSP00000470916.2:p.Leu3=
ENST00000676555.1:c.9G>A ENSP00000503387.1:p.Leu3=
ENST00000676578.1:c.9G>A ENSP00000504076.1:p.Leu3=
ENST00000676651.1:n.37G>A
ENST00000676960.1:n.85-227G>A
ENST00000676962.1:n.145G>A
ENST00000677018.1:c.9G>A ENSP00000503480.1:p.Leu3=
ENST00000677039.1:n.64G>A
ENST00000677399.1:n.308G>A
ENST00000677496.1:c.-158-227G>A ENSP00000504773.1:n.-158-227G>A
ENST00000677517.1:c.-158-227G>A ENSP00000503519.1:n.-158-227G>A
ENST00000677633.1:c.9G>A ENSP00000503645.1:p.Leu3=
ENST00000677800.1:c.9G>A ENSP00000503794.1:p.Leu3=
ENST00000678057.1:c.9G>A ENSP00000503762.1:p.Leu3=
ENST00000678119.1:n.60G>A
ENST00000678166.1:n.150G>A
ENST00000678312.1:n.297-227G>A
ENST00000678316.1:c.9G>A ENSP00000504112.1:p.Leu3=
ENST00000678371.1:n.224G>A
ENST00000678404.1:c.9G>A ENSP00000503944.1:p.Leu3=
ENST00000678419.1:c.9G>A ENSP00000504085.1:p.Leu3=
ENST00000678433.1:n.226G>A
ENST00000678467.1:c.9G>A ENSP00000504072.1:p.Leu3=
ENST00000678569.1:c.9G>A ENSP00000504261.1:p.Leu3=
ENST00000678961.1:n.49G>A
ENST00000679002.1:n.45G>A
ENST00000679012.1:c.-404G>A ENSP00000504446.1:n.-404G>A
ENST00000679070.1:c.-158-227G>A ENSP00000503759.1:n.-158-227G>A
ENST00000679130.1:c.9G>A ENSP00000504845.1:p.Leu3=
ENST00000679315.1:c.9G>A ENSP00000503065.1:p.Leu3=
ENST00000243583.10:c.9G>A ENSP00000243583.5:p.Leu3=
ENST00000324464.7:c.9G>A ENSP00000315118.3:p.Leu3=
ENST00000593544.1:n.51-227G>A
ENST00000593723.1:c.9G>A ENSP00000472775.1:p.Leu3=
ENST00000594084.5:c.9G>A ENSP00000473189.1:p.Leu3=
ENST00000594490.5:c.9G>A ENSP00000471310.1:p.Leu3=
ENST00000594720.5:c.9G>A ENSP00000470876.1:p.Leu3=
ENST00000595254.5:c.-225-227G>A ENSP00000470894.1:n.-225-227G>A
ENST00000596357.1:c.9G>A ENSP00000472925.1:p.Leu3=
ENST00000596455.5:n.80-227G>A
ENST00000599643.5:c.9G>A ENSP00000471192.1:p.Leu3=
ENST00000600080.5:c.-225-227G>A ENSP00000473017.1:n.-225-227G>A
ENST00000600707.5:c.9G>A ENSP00000472978.1:p.Leu3=
ENST00000601304.5:c.9G>A ENSP00000472519.1:p.Leu3=
ENST00000601451.5:n.311G>A
ENST00000601967.5:c.9G>A ENSP00000470916.1:p.Leu3=
NM_001142555.2:c.9G>A NP_001136027.1:p.Leu3=
NM_024876.3:c.9G>A NP_079152.3:p.Leu3=
XM_005259270.3:c.171G>A XP_005259327.2:p.Leu57=
XM_005259271.3:c.9G>A XP_005259328.1:p.Leu3=
XM_005259272.3:c.9G>A XP_005259329.1:p.Leu3=
XM_005259273.3:c.9G>A XP_005259330.1:p.Leu3=
XM_006723392.2:c.9G>A XP_006723455.1:p.Leu3=
XM_006723393.2:c.9G>A XP_006723456.1:p.Leu3=
XM_011527334.1:c.9G>A XP_011525636.1:p.Leu3=
XM_011527335.1:c.9G>A XP_011525637.1:p.Leu3=
XM_011527336.1:c.133-227G>A XP_011525638.1:n.133-227G>A
XM_011527337.1:c.9G>A XP_011525639.1:p.Leu3=
XM_011527338.1:c.9G>A XP_011525640.1:p.Leu3=
NM_024876.4:c.9G>A MANE Select NP_079152.3:p.Leu3=
NM_001142555.3:c.9G>A NP_001136027.1:p.Leu3=