Canonical Allele Identifier: CA2336102133

Gene: COQ8B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692367A= , CM000681.2:g.40692367A=	GRCh38
NC_000019.9:g.41198272A= , CM000681.1:g.41198272A=	GRCh37
NC_000019.8:g.45890112A=	NCBI36
NG_027800.1:g.29519T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.1303T= MANE Select	ENSP00000315118.3:p.Ser435=
ENST00000593724.2:n.3126T=
ENST00000594490.6:c.1225T=	ENSP00000471310.2:p.Ser409=
ENST00000594720.6:c.1303T=	ENSP00000470876.2:p.Ser435=
ENST00000596455.6:n.1595T=
ENST00000601967.6:c.1303T=	ENSP00000470916.2:p.Ser435=
ENST00000676555.1:c.*728T=	ENSP00000503387.1:n.*728T=
ENST00000676578.1:c.*1045T=	ENSP00000504076.1:n.*1045T=
ENST00000676960.1:n.1428T=
ENST00000676962.1:n.1582T=
ENST00000677018.1:c.1303T=	ENSP00000503480.1:p.Ser435=
ENST00000677039.1:n.3506T=
ENST00000677399.1:n.1745T=
ENST00000677496.1:c.976T=	ENSP00000504773.1:p.Ser326=
ENST00000677517.1:c.976T=	ENSP00000503519.1:p.Ser326=
ENST00000677633.1:c.*726T=	ENSP00000503645.1:n.*726T=
ENST00000677800.1:c.*4407T=	ENSP00000503794.1:n.*4407T=
ENST00000678057.1:c.*867T=	ENSP00000503762.1:n.*867T=
ENST00000678119.1:n.1497T=
ENST00000678166.1:n.1446T=
ENST00000678312.1:n.1640T=
ENST00000678316.1:c.*726T=	ENSP00000504112.1:n.*726T=
ENST00000678371.1:n.1753T=
ENST00000678404.1:c.1303T=	ENSP00000503944.1:p.Ser435=
ENST00000678419.1:c.1303T=	ENSP00000504085.1:p.Ser435=
ENST00000678433.1:n.1659T=
ENST00000678467.1:c.1303T=	ENSP00000504072.1:p.Ser435=
ENST00000678569.1:c.*288T=	ENSP00000504261.1:n.*288T=
ENST00000678961.1:n.1658T=
ENST00000679002.1:n.1482T=
ENST00000679012.1:c.859T=	ENSP00000504446.1:p.Ser287=
ENST00000679070.1:c.*722T=	ENSP00000503759.1:n.*722T=
ENST00000679130.1:c.1303T=	ENSP00000504845.1:p.Ser435=
ENST00000679315.1:c.*1133T=	ENSP00000503065.1:n.*1133T=
ENST00000243583.10:c.1180T=	ENSP00000243583.5:p.Ser394=
ENST00000324464.7:c.1303T=	ENSP00000315118.3:p.Ser435=
ENST00000593724.1:n.1418T=
NM_001142555.2:c.1180T=	NP_001136027.1:p.Ser394=
NM_024876.3:c.1303T=	NP_079152.3:p.Ser435=
XM_005259270.3:c.1465T=	XP_005259327.2:p.Ser489=
XM_005259271.3:c.1303T=	XP_005259328.1:p.Ser435=
XM_005259272.3:c.1303T=	XP_005259329.1:p.Ser435=
XM_005259273.3:c.1303T=	XP_005259330.1:p.Ser435=
XM_006723392.2:c.1303T=	XP_006723455.1:p.Ser435=
XM_006723393.2:c.1303T=	XP_006723456.1:p.Ser435=
XM_011527334.1:c.1303T=	XP_011525636.1:p.Ser435=
XM_011527335.1:c.1162T=	XP_011525637.1:p.Ser388=
XM_011527336.1:c.1333T=	XP_011525638.1:p.Ser445=
XM_011527337.1:c.1303T=	XP_011525639.1:p.Ser435=
XM_011527338.1:c.1303T=	XP_011525640.1:p.Ser435=
NM_024876.4:c.1303T= MANE Select	NP_079152.3:p.Ser435=
NM_001142555.3:c.1180T=	NP_001136027.1:p.Ser394=