Canonical Allele Identifier: CA145477
Gene: COQ8B HGNC NCBI

Linked Data

ClinVar Variation Id: 91850
ClinVar RCV Id: RCV000077758
dbSNP Id: rs398122982

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40695999dup , CM000681.2:g.40695999dup GRCh38
NC_000019.9:g.41201904dup , CM000681.1:g.41201904dup GRCh37
NC_000019.8:g.45893744dup NCBI36
NG_027800.1:g.25887dup

Transcript Alleles

HGVS Amino-acid change
ENST00000324464.8:c.1199dup MANE Select ENSP00000315118.3:p.His400GlnfsTer11
ENST00000593724.2:n.3022dup
ENST00000594490.6:c.1121dup ENSP00000471310.2:p.His374GlnfsTer11
ENST00000594720.6:c.1199dup ENSP00000470876.2:p.His400GlnfsTer11
ENST00000596455.6:n.1491dup
ENST00000601967.6:c.1199dup ENSP00000470916.2:p.His400GlnfsTer11
ENST00000676555.1:c.*624dup ENSP00000503387.1:n.*624dup
ENST00000676578.1:c.*941dup ENSP00000504076.1:n.*941dup
ENST00000676960.1:n.1324dup
ENST00000676962.1:n.1478dup
ENST00000677018.1:c.1199dup ENSP00000503480.1:p.His400GlnfsTer11
ENST00000677039.1:n.3402dup
ENST00000677399.1:n.1641dup
ENST00000677496.1:c.872dup ENSP00000504773.1:p.His291GlnfsTer11
ENST00000677517.1:c.872dup ENSP00000503519.1:p.His291GlnfsTer11
ENST00000677633.1:c.*622dup ENSP00000503645.1:n.*622dup
ENST00000677800.1:c.*4303dup ENSP00000503794.1:n.*4303dup
ENST00000678057.1:c.*763dup ENSP00000503762.1:n.*763dup
ENST00000678119.1:n.1393dup
ENST00000678166.1:n.1342dup
ENST00000678312.1:n.1536dup
ENST00000678316.1:c.*622dup ENSP00000504112.1:n.*622dup
ENST00000678371.1:n.1649dup
ENST00000678404.1:c.1199dup ENSP00000503944.1:p.His400GlnfsTer11
ENST00000678419.1:c.1199dup ENSP00000504085.1:p.His400GlnfsTer11
ENST00000678433.1:n.1555dup
ENST00000678467.1:c.1199dup ENSP00000504072.1:p.His400GlnfsTer11
ENST00000678569.1:c.*184dup ENSP00000504261.1:n.*184dup
ENST00000678961.1:n.1554dup
ENST00000679002.1:n.1378dup
ENST00000679012.1:c.755dup ENSP00000504446.1:p.His252GlnfsTer11
ENST00000679070.1:c.*618dup ENSP00000503759.1:n.*618dup
ENST00000679130.1:c.1199dup ENSP00000504845.1:p.His400GlnfsTer11
ENST00000679315.1:c.*1029dup ENSP00000503065.1:n.*1029dup
ENST00000243583.10:c.1076dup ENSP00000243583.5:p.His359GlnfsTer11
ENST00000324464.7:c.1199dup ENSP00000315118.3:p.His400GlnfsTer11
ENST00000593724.1:n.1314dup
NM_001142555.2:c.1076dup NP_001136027.1:p.His359GlnfsTer11
NM_024876.3:c.1199dup NP_079152.3:p.His400GlnfsTer11
XM_005259270.3:c.1361dup XP_005259327.2:p.His454GlnfsTer11
XM_005259271.3:c.1199dup XP_005259328.1:p.His400GlnfsTer11
XM_005259272.3:c.1199dup XP_005259329.1:p.His400GlnfsTer11
XM_005259273.3:c.1199dup XP_005259330.1:p.His400GlnfsTer11
XM_006723392.2:c.1199dup XP_006723455.1:p.His400GlnfsTer11
XM_006723393.2:c.1199dup XP_006723456.1:p.His400GlnfsTer11
XM_011527334.1:c.1199dup XP_011525636.1:p.His400GlnfsTer11
XM_011527335.1:c.1058dup XP_011525637.1:p.His353GlnfsTer11
XM_011527336.1:c.1229dup XP_011525638.1:p.His410GlnfsTer11
XM_011527337.1:c.1199dup XP_011525639.1:p.His400GlnfsTer11
XM_011527338.1:c.1199dup XP_011525640.1:p.His400GlnfsTer11
NM_024876.4:c.1199dup MANE Select NP_079152.3:p.His400GlnfsTer11
NM_001142555.3:c.1076dup NP_001136027.1:p.His359GlnfsTer11