Canonical Allele Identifier: CA2336102116
Gene: COQ8B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40692346C= , CM000681.2:g.40692346C= GRCh38
NC_000019.9:g.41198251C= , CM000681.1:g.41198251C= GRCh37
NC_000019.8:g.45890091C= NCBI36
NG_027800.1:g.29540G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000324464.8:c.1324G= MANE Select ENSP00000315118.3:p.Val442=
ENST00000593724.2:n.3147G=
ENST00000594490.6:c.1246G= ENSP00000471310.2:p.Val416=
ENST00000594720.6:c.1324G= ENSP00000470876.2:p.Val442=
ENST00000596455.6:n.1616G=
ENST00000601967.6:c.1324G= ENSP00000470916.2:p.Val442=
ENST00000676555.1:c.*749G= ENSP00000503387.1:n.*749G=
ENST00000676578.1:c.*1066G= ENSP00000504076.1:n.*1066G=
ENST00000676960.1:n.1449G=
ENST00000676962.1:n.1603G=
ENST00000677018.1:c.1324G= ENSP00000503480.1:p.Val442=
ENST00000677039.1:n.3527G=
ENST00000677399.1:n.1766G=
ENST00000677496.1:c.997G= ENSP00000504773.1:p.Val333=
ENST00000677517.1:c.997G= ENSP00000503519.1:p.Val333=
ENST00000677633.1:c.*747G= ENSP00000503645.1:n.*747G=
ENST00000677800.1:c.*4428G= ENSP00000503794.1:n.*4428G=
ENST00000678057.1:c.*888G= ENSP00000503762.1:n.*888G=
ENST00000678119.1:n.1518G=
ENST00000678166.1:n.1467G=
ENST00000678312.1:n.1661G=
ENST00000678316.1:c.*747G= ENSP00000504112.1:n.*747G=
ENST00000678371.1:n.1774G=
ENST00000678404.1:c.1324G= ENSP00000503944.1:p.Val442=
ENST00000678419.1:c.1324G= ENSP00000504085.1:p.Val442=
ENST00000678433.1:n.1680G=
ENST00000678467.1:c.1324G= ENSP00000504072.1:p.Val442=
ENST00000678569.1:c.*309G= ENSP00000504261.1:n.*309G=
ENST00000678961.1:n.1679G=
ENST00000679002.1:n.1503G=
ENST00000679012.1:c.880G= ENSP00000504446.1:p.Val294=
ENST00000679070.1:c.*743G= ENSP00000503759.1:n.*743G=
ENST00000679130.1:c.1324G= ENSP00000504845.1:p.Val442=
ENST00000679315.1:c.*1154G= ENSP00000503065.1:n.*1154G=
ENST00000243583.10:c.1201G= ENSP00000243583.5:p.Val401=
ENST00000324464.7:c.1324G= ENSP00000315118.3:p.Val442=
ENST00000593724.1:n.1439G=
NM_001142555.2:c.1201G= NP_001136027.1:p.Val401=
NM_024876.3:c.1324G= NP_079152.3:p.Val442=
XM_005259270.3:c.1486G= XP_005259327.2:p.Val496=
XM_005259271.3:c.1324G= XP_005259328.1:p.Val442=
XM_005259272.3:c.1324G= XP_005259329.1:p.Val442=
XM_005259273.3:c.1324G= XP_005259330.1:p.Val442=
XM_006723392.2:c.1324G= XP_006723455.1:p.Val442=
XM_006723393.2:c.1324G= XP_006723456.1:p.Val442=
XM_011527334.1:c.1324G= XP_011525636.1:p.Val442=
XM_011527335.1:c.1183G= XP_011525637.1:p.Val395=
XM_011527336.1:c.1354G= XP_011525638.1:p.Val452=
XM_011527337.1:c.1324G= XP_011525639.1:p.Val442=
XM_011527338.1:c.1324G= XP_011525640.1:p.Val442=
NM_024876.4:c.1324G= MANE Select NP_079152.3:p.Val442=
NM_001142555.3:c.1201G= NP_001136027.1:p.Val401=