Canonical Allele Identifier: CA2336102085
Gene: COQ8B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40692293C= , CM000681.2:g.40692293C= GRCh38
NC_000019.9:g.41198198C= , CM000681.1:g.41198198C= GRCh37
NC_000019.8:g.45890038C= NCBI36
NG_027800.1:g.29593G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000324464.8:c.1377G= MANE Select ENSP00000315118.3:p.Ser459=
ENST00000593724.2:n.3200G=
ENST00000594490.6:c.1299G= ENSP00000471310.2:p.Ser433=
ENST00000594720.6:c.1377G= ENSP00000470876.2:p.Ser459=
ENST00000596455.6:n.1669G=
ENST00000601967.6:c.1377G= ENSP00000470916.2:p.Ser459=
ENST00000676555.1:c.*802G= ENSP00000503387.1:n.*802G=
ENST00000676578.1:c.*1119G= ENSP00000504076.1:n.*1119G=
ENST00000676960.1:n.1502G=
ENST00000676962.1:n.1656G=
ENST00000677018.1:c.1377G= ENSP00000503480.1:p.Ser459=
ENST00000677039.1:n.3580G=
ENST00000677399.1:n.1819G=
ENST00000677496.1:c.1050G= ENSP00000504773.1:p.Ser350=
ENST00000677517.1:c.1050G= ENSP00000503519.1:p.Ser350=
ENST00000677633.1:c.*800G= ENSP00000503645.1:n.*800G=
ENST00000677800.1:c.*4481G= ENSP00000503794.1:n.*4481G=
ENST00000678057.1:c.*941G= ENSP00000503762.1:n.*941G=
ENST00000678119.1:n.1571G=
ENST00000678166.1:n.1520G=
ENST00000678312.1:n.1714G=
ENST00000678316.1:c.*800G= ENSP00000504112.1:n.*800G=
ENST00000678371.1:n.1827G=
ENST00000678404.1:c.1377G= ENSP00000503944.1:p.Ser459=
ENST00000678419.1:c.1377G= ENSP00000504085.1:p.Ser459=
ENST00000678433.1:n.1733G=
ENST00000678467.1:c.1377G= ENSP00000504072.1:p.Ser459=
ENST00000678569.1:c.*362G= ENSP00000504261.1:n.*362G=
ENST00000678961.1:n.1732G=
ENST00000679002.1:n.1556G=
ENST00000679012.1:c.933G= ENSP00000504446.1:p.Ser311=
ENST00000679070.1:c.*796G= ENSP00000503759.1:n.*796G=
ENST00000679130.1:c.1377G= ENSP00000504845.1:p.Ser459=
ENST00000679315.1:c.*1207G= ENSP00000503065.1:n.*1207G=
ENST00000243583.10:c.1254G= ENSP00000243583.5:p.Ser418=
ENST00000324464.7:c.1377G= ENSP00000315118.3:p.Ser459=
ENST00000593724.1:n.1492G=
NM_001142555.2:c.1254G= NP_001136027.1:p.Ser418=
NM_024876.3:c.1377G= NP_079152.3:p.Ser459=
XM_005259270.3:c.1539G= XP_005259327.2:p.Ser513=
XM_005259271.3:c.1377G= XP_005259328.1:p.Ser459=
XM_005259272.3:c.1377G= XP_005259329.1:p.Ser459=
XM_005259273.3:c.1377G= XP_005259330.1:p.Ser459=
XM_006723392.2:c.1377G= XP_006723455.1:p.Ser459=
XM_006723393.2:c.1377G= XP_006723456.1:p.Ser459=
XM_011527334.1:c.1377G= XP_011525636.1:p.Ser459=
XM_011527335.1:c.1236G= XP_011525637.1:p.Ser412=
XM_011527336.1:c.1407G= XP_011525638.1:p.Ser469=
XM_011527337.1:c.1377G= XP_011525639.1:p.Ser459=
XM_011527338.1:c.1377G= XP_011525640.1:p.Ser459=
NM_024876.4:c.1377G= MANE Select NP_079152.3:p.Ser459=
NM_001142555.3:c.1254G= NP_001136027.1:p.Ser418=