Canonical Allele Identifier: CA2336108056
Gene: COQ8B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40705140G= , CM000681.2:g.40705140G= GRCh38
NC_000019.9:g.41211045G= , CM000681.1:g.41211045G= GRCh37
NC_000019.8:g.45902885G= NCBI36
NG_027800.1:g.16746C=

Transcript Alleles

HGVS Amino-acid Change
NM_024876.4:c.532C= MANE Select NP_079152.3:p.Arg178=
ENST00000324464.8:c.532C= MANE Select ENSP00000315118.3:p.Arg178=
NM_001142555.2:c.409C= NP_001136027.1:p.Arg137=
NM_001142555.3:c.409C= NP_001136027.1:p.Arg137=
NM_024876.3:c.532C= NP_079152.3:p.Arg178=
ENST00000243583.10:c.409C= ENSP00000243583.5:p.Arg137=
ENST00000324464.7:c.532C= ENSP00000315118.3:p.Arg178=
ENST00000593724.2:n.393-1518C=
ENST00000594490.6:c.454C= ENSP00000471310.2:p.Arg152=
ENST00000594720.6:c.532C= ENSP00000470876.2:p.Arg178=
ENST00000595254.5:c.205C= ENSP00000470894.1:p.Arg69=
ENST00000596455.5:n.652C=
ENST00000596455.6:n.824C=
ENST00000599643.5:c.291C= ENSP00000471192.1:p.Ser97=
ENST00000600080.5:c.198C= ENSP00000473017.1:p.Ser66=
ENST00000601304.5:c.*306C= ENSP00000472519.1:n.*306C=
ENST00000601451.5:n.977C=
ENST00000601967.5:c.532C= ENSP00000470916.1:p.Arg178=
ENST00000601967.6:c.532C= ENSP00000470916.2:p.Arg178=
ENST00000676555.1:c.532C= ENSP00000503387.1:p.Arg178=
ENST00000676578.1:c.*274C= ENSP00000504076.1:n.*274C=
ENST00000676960.1:n.657C=
ENST00000676962.1:n.811C=
ENST00000677018.1:c.532C= ENSP00000503480.1:p.Arg178=
ENST00000677039.1:n.587C=
ENST00000677399.1:n.974C=
ENST00000677496.1:c.205C= ENSP00000504773.1:p.Arg69=
ENST00000677517.1:c.205C= ENSP00000503519.1:p.Arg69=
ENST00000677633.1:c.525C= ENSP00000503645.1:p.Ser175=
ENST00000677800.1:c.*3636C= ENSP00000503794.1:n.*3636C=
ENST00000678057.1:c.*96C= ENSP00000503762.1:n.*96C=
ENST00000678119.1:n.726C=
ENST00000678166.1:n.816C=
ENST00000678312.1:n.869C=
ENST00000678316.1:c.507C= ENSP00000504112.1:p.Ser169=
ENST00000678371.1:n.890C=
ENST00000678404.1:c.532C= ENSP00000503944.1:p.Arg178=
ENST00000678419.1:c.532C= ENSP00000504085.1:p.Arg178=
ENST00000678433.1:n.892C=
ENST00000678467.1:c.532C= ENSP00000504072.1:p.Arg178=
ENST00000678569.1:c.532C= ENSP00000504261.1:p.Arg178=
ENST00000678961.1:n.715C=
ENST00000679002.1:n.711C=
ENST00000679012.1:c.88C= ENSP00000504446.1:p.Arg30=
ENST00000679070.1:c.198C= ENSP00000503759.1:p.Ser66=
ENST00000679130.1:c.532C= ENSP00000504845.1:p.Arg178=
ENST00000679315.1:c.*362C= ENSP00000503065.1:n.*362C=
XM_005259270.3:c.694C= XP_005259327.2:p.Arg232=
XM_005259271.3:c.532C= XP_005259328.1:p.Arg178=
XM_005259272.3:c.532C= XP_005259329.1:p.Arg178=
XM_005259273.3:c.532C= XP_005259330.1:p.Arg178=
XM_006723392.2:c.532C= XP_006723455.1:p.Arg178=
XM_006723393.2:c.532C= XP_006723456.1:p.Arg178=
XM_011527334.1:c.532C= XP_011525636.1:p.Arg178=
XM_011527335.1:c.532C= XP_011525637.1:p.Arg178=
XM_011527336.1:c.562C= XP_011525638.1:p.Arg188=
XM_011527337.1:c.532C= XP_011525639.1:p.Arg178=
XM_011527338.1:c.532C= XP_011525640.1:p.Arg178=