Canonical Allele Identifier: CA9450523

Gene: COQ8B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40714313G>A , CM000681.2:g.40714313G>A	GRCh38
NC_000019.9:g.41220218G>A , CM000681.1:g.41220218G>A	GRCh37
NC_000019.8:g.45912058G>A	NCBI36
NG_012970.1:g.2211G>A
NG_027800.1:g.7573C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.187C>T MANE Select	ENSP00000315118.3:p.Arg63Trp
ENST00000593724.2:n.279C>T
ENST00000594490.6:c.187C>T	ENSP00000471310.2:p.Arg63Trp
ENST00000594720.6:c.187C>T	ENSP00000470876.2:p.Arg63Trp
ENST00000596455.6:n.336C>T
ENST00000601967.6:c.187C>T	ENSP00000470916.2:p.Arg63Trp
ENST00000676555.1:c.187C>T	ENSP00000503387.1:p.Arg63Trp
ENST00000676578.1:c.187C>T	ENSP00000504076.1:p.Arg63Trp
ENST00000676651.1:n.215C>T
ENST00000676960.1:n.169C>T
ENST00000676962.1:n.323C>T
ENST00000677018.1:c.187C>T	ENSP00000503480.1:p.Arg63Trp
ENST00000677039.1:n.242C>T
ENST00000677399.1:n.486C>T
ENST00000677496.1:c.-74C>T	ENSP00000504773.1:n.-74C>T
ENST00000677517.1:c.-74C>T	ENSP00000503519.1:n.-74C>T
ENST00000677633.1:c.187C>T	ENSP00000503645.1:p.Arg63Trp
ENST00000677800.1:c.187C>T	ENSP00000503794.1:p.Arg63Trp
ENST00000678057.1:c.187C>T	ENSP00000503762.1:p.Arg63Trp
ENST00000678119.1:n.238C>T
ENST00000678166.1:n.328C>T
ENST00000678312.1:n.381C>T
ENST00000678316.1:c.187C>T	ENSP00000504112.1:p.Arg63Trp
ENST00000678371.1:n.402C>T
ENST00000678404.1:c.187C>T	ENSP00000503944.1:p.Arg63Trp
ENST00000678419.1:c.187C>T	ENSP00000504085.1:p.Arg63Trp
ENST00000678433.1:n.404C>T
ENST00000678467.1:c.187C>T	ENSP00000504072.1:p.Arg63Trp
ENST00000678569.1:c.187C>T	ENSP00000504261.1:p.Arg63Trp
ENST00000678961.1:n.227C>T
ENST00000679002.1:n.223C>T
ENST00000679012.1:c.-226C>T	ENSP00000504446.1:n.-226C>T
ENST00000679070.1:c.-74C>T	ENSP00000503759.1:n.-74C>T
ENST00000679130.1:c.187C>T	ENSP00000504845.1:p.Arg63Trp
ENST00000679315.1:c.187C>T	ENSP00000503065.1:p.Arg63Trp
ENST00000243583.10:c.187C>T	ENSP00000243583.5:p.Arg63Trp
ENST00000324464.7:c.187C>T	ENSP00000315118.3:p.Arg63Trp
ENST00000593544.1:n.135C>T
ENST00000594084.5:c.187C>T	ENSP00000473189.1:p.Arg63Trp
ENST00000594490.5:c.187C>T	ENSP00000471310.1:p.Arg63Trp
ENST00000594720.5:c.187C>T	ENSP00000470876.1:p.Arg63Trp
ENST00000595254.5:c.-141C>T	ENSP00000470894.1:n.-141C>T
ENST00000596357.1:c.187C>T	ENSP00000472925.1:p.Arg63Trp
ENST00000596455.5:n.164C>T
ENST00000599643.5:c.187C>T	ENSP00000471192.1:p.Arg63Trp
ENST00000600080.5:c.-141C>T	ENSP00000473017.1:n.-141C>T
ENST00000600707.5:c.187C>T	ENSP00000472978.1:p.Arg63Trp
ENST00000601304.5:c.187C>T	ENSP00000472519.1:p.Arg63Trp
ENST00000601451.5:n.489C>T
ENST00000601967.5:c.187C>T	ENSP00000470916.1:p.Arg63Trp
NM_001142555.2:c.187C>T	NP_001136027.1:p.Arg63Trp
NM_024876.3:c.187C>T	NP_079152.3:p.Arg63Trp
XM_005259270.3:c.349C>T	XP_005259327.2:p.Arg117Trp
XM_005259271.3:c.187C>T	XP_005259328.1:p.Arg63Trp
XM_005259272.3:c.187C>T	XP_005259329.1:p.Arg63Trp
XM_005259273.3:c.187C>T	XP_005259330.1:p.Arg63Trp
XM_006723392.2:c.187C>T	XP_006723455.1:p.Arg63Trp
XM_006723393.2:c.187C>T	XP_006723456.1:p.Arg63Trp
XM_011527334.1:c.187C>T	XP_011525636.1:p.Arg63Trp
XM_011527335.1:c.187C>T	XP_011525637.1:p.Arg63Trp
XM_011527336.1:c.217C>T	XP_011525638.1:p.Arg73Trp
XM_011527337.1:c.187C>T	XP_011525639.1:p.Arg63Trp
XM_011527338.1:c.187C>T	XP_011525640.1:p.Arg63Trp
NM_024876.4:c.187C>T MANE Select	NP_079152.3:p.Arg63Trp
NM_001142555.3:c.187C>T	NP_001136027.1:p.Arg63Trp