Canonical Allele Identifier: CA308448332
Community Standard Title: NM_024876.4(COQ8B):c.290-256C>T
Gene: COQ8B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40710392G>A , CM000681.2:g.40710392G>A GRCh38
NC_000019.9:g.41216297G>A , CM000681.1:g.41216297G>A GRCh37
NC_000019.8:g.45908137G>A NCBI36
NG_027800.1:g.11494C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024876.4:c.290-256C>T MANE Select NP_079152.3:n.290-256C>T
ENST00000324464.8:c.290-256C>T MANE Select ENSP00000315118.3:n.290-256C>T
NM_001142555.2:c.290-256C>T NP_001136027.1:n.290-256C>T
NM_001142555.3:c.290-256C>T NP_001136027.1:n.290-256C>T
NM_024876.3:c.290-256C>T NP_079152.3:n.290-256C>T
ENST00000243583.10:c.290-256C>T ENSP00000243583.5:n.290-256C>T
ENST00000324464.7:c.290-256C>T ENSP00000315118.3:n.290-256C>T
ENST00000593544.1:n.238-256C>T
ENST00000593724.2:n.315-256C>T
ENST00000594084.5:c.290-256C>T ENSP00000473189.1:n.290-256C>T
ENST00000594490.5:c.289+3675C>T ENSP00000471310.1:n.289+3675C>T
ENST00000594490.6:c.289+3675C>T ENSP00000471310.2:n.289+3675C>T
ENST00000594720.5:c.290-256C>T ENSP00000470876.1:n.290-256C>T
ENST00000594720.6:c.290-256C>T ENSP00000470876.2:n.290-256C>T
ENST00000595254.5:c.-38-256C>T ENSP00000470894.1:n.-38-256C>T
ENST00000596357.1:c.290-256C>T ENSP00000472925.1:n.290-256C>T
ENST00000596455.5:n.267-256C>T
ENST00000596455.6:n.439-256C>T
ENST00000599643.5:c.249+3715C>T ENSP00000471192.1:n.249+3715C>T
ENST00000600080.5:c.-38-256C>T ENSP00000473017.1:n.-38-256C>T
ENST00000600707.5:c.290-256C>T ENSP00000472978.1:n.290-256C>T
ENST00000601304.5:c.*64-256C>T ENSP00000472519.1:n.*64-256C>T
ENST00000601451.5:n.592-256C>T
ENST00000601967.5:c.290-256C>T ENSP00000470916.1:n.290-256C>T
ENST00000601967.6:c.290-256C>T ENSP00000470916.2:n.290-256C>T
ENST00000676555.1:c.290-256C>T ENSP00000503387.1:n.290-256C>T
ENST00000676578.1:c.*32-256C>T ENSP00000504076.1:n.*32-256C>T
ENST00000676651.1:n.318-256C>T
ENST00000676960.1:n.272-256C>T
ENST00000676962.1:n.426-256C>T
ENST00000677018.1:c.290-256C>T ENSP00000503480.1:n.290-256C>T
ENST00000677039.1:n.345-256C>T
ENST00000677399.1:n.589-256C>T
ENST00000677496.1:c.-38-256C>T ENSP00000504773.1:n.-38-256C>T
ENST00000677517.1:c.-38-256C>T ENSP00000503519.1:n.-38-256C>T
ENST00000677633.1:c.290-256C>T ENSP00000503645.1:n.290-256C>T
ENST00000677800.1:c.290-256C>T ENSP00000503794.1:n.290-256C>T
ENST00000678057.1:c.223-256C>T ENSP00000503762.1:n.223-256C>T
ENST00000678119.1:n.341-256C>T
ENST00000678166.1:n.431-256C>T
ENST00000678312.1:n.484-256C>T
ENST00000678316.1:c.290-256C>T ENSP00000504112.1:n.290-256C>T
ENST00000678371.1:n.505-256C>T
ENST00000678404.1:c.290-256C>T ENSP00000503944.1:n.290-256C>T
ENST00000678419.1:c.290-256C>T ENSP00000504085.1:n.290-256C>T
ENST00000678433.1:n.507-256C>T
ENST00000678467.1:c.290-256C>T ENSP00000504072.1:n.290-256C>T
ENST00000678569.1:c.290-256C>T ENSP00000504261.1:n.290-256C>T
ENST00000678961.1:n.330-256C>T
ENST00000679002.1:n.326-256C>T
ENST00000679012.1:c.-123-256C>T ENSP00000504446.1:n.-123-256C>T
ENST00000679070.1:c.-38-256C>T ENSP00000503759.1:n.-38-256C>T
ENST00000679130.1:c.290-256C>T ENSP00000504845.1:n.290-256C>T
ENST00000679315.1:c.223-256C>T ENSP00000503065.1:n.223-256C>T
XM_005259270.3:c.452-256C>T XP_005259327.2:n.452-256C>T
XM_005259271.3:c.290-256C>T XP_005259328.1:n.290-256C>T
XM_005259272.3:c.290-256C>T XP_005259329.1:n.290-256C>T
XM_005259273.3:c.290-256C>T XP_005259330.1:n.290-256C>T
XM_006723392.2:c.290-256C>T XP_006723455.1:n.290-256C>T
XM_006723393.2:c.290-256C>T XP_006723456.1:n.290-256C>T
XM_011527334.1:c.290-256C>T XP_011525636.1:n.290-256C>T
XM_011527335.1:c.290-256C>T XP_011525637.1:n.290-256C>T
XM_011527336.1:c.320-256C>T XP_011525638.1:n.320-256C>T
XM_011527337.1:c.290-256C>T XP_011525639.1:n.290-256C>T
XM_011527338.1:c.290-256C>T XP_011525640.1:n.290-256C>T