Canonical Allele Identifier: CA308435117

Gene: COQ8B

Linked Data

• dbSNP Id: rs1005685405
• MyVariant Identifiers: chr19:g.41198255C>G (hg19) ; chr19:g.40692350C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692350C>G , CM000681.2:g.40692350C>G	GRCh38
NC_000019.9:g.41198255C>G , CM000681.1:g.41198255C>G	GRCh37
NC_000019.8:g.45890095C>G	NCBI36
NG_027800.1:g.29536G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.1320G>C MANE Select	ENSP00000315118.3:p.Glu440Asp
ENST00000593724.2:n.3143G>C
ENST00000594490.6:c.1242G>C	ENSP00000471310.2:p.Glu414Asp
ENST00000594720.6:c.1320G>C	ENSP00000470876.2:p.Glu440Asp
ENST00000596455.6:n.1612G>C
ENST00000601967.6:c.1320G>C	ENSP00000470916.2:p.Glu440Asp
ENST00000676555.1:c.*745G>C	ENSP00000503387.1:n.*745G>C
ENST00000676578.1:c.*1062G>C	ENSP00000504076.1:n.*1062G>C
ENST00000676960.1:n.1445G>C
ENST00000676962.1:n.1599G>C
ENST00000677018.1:c.1320G>C	ENSP00000503480.1:p.Glu440Asp
ENST00000677039.1:n.3523G>C
ENST00000677399.1:n.1762G>C
ENST00000677496.1:c.993G>C	ENSP00000504773.1:p.Glu331Asp
ENST00000677517.1:c.993G>C	ENSP00000503519.1:p.Glu331Asp
ENST00000677633.1:c.*743G>C	ENSP00000503645.1:n.*743G>C
ENST00000677800.1:c.*4424G>C	ENSP00000503794.1:n.*4424G>C
ENST00000678057.1:c.*884G>C	ENSP00000503762.1:n.*884G>C
ENST00000678119.1:n.1514G>C
ENST00000678166.1:n.1463G>C
ENST00000678312.1:n.1657G>C
ENST00000678316.1:c.*743G>C	ENSP00000504112.1:n.*743G>C
ENST00000678371.1:n.1770G>C
ENST00000678404.1:c.1320G>C	ENSP00000503944.1:p.Glu440Asp
ENST00000678419.1:c.1320G>C	ENSP00000504085.1:p.Glu440Asp
ENST00000678433.1:n.1676G>C
ENST00000678467.1:c.1320G>C	ENSP00000504072.1:p.Glu440Asp
ENST00000678569.1:c.*305G>C	ENSP00000504261.1:n.*305G>C
ENST00000678961.1:n.1675G>C
ENST00000679002.1:n.1499G>C
ENST00000679012.1:c.876G>C	ENSP00000504446.1:p.Glu292Asp
ENST00000679070.1:c.*739G>C	ENSP00000503759.1:n.*739G>C
ENST00000679130.1:c.1320G>C	ENSP00000504845.1:p.Glu440Asp
ENST00000679315.1:c.*1150G>C	ENSP00000503065.1:n.*1150G>C
ENST00000243583.10:c.1197G>C	ENSP00000243583.5:p.Glu399Asp
ENST00000324464.7:c.1320G>C	ENSP00000315118.3:p.Glu440Asp
ENST00000593724.1:n.1435G>C
NM_001142555.2:c.1197G>C	NP_001136027.1:p.Glu399Asp
NM_024876.3:c.1320G>C	NP_079152.3:p.Glu440Asp
XM_005259270.3:c.1482G>C	XP_005259327.2:p.Glu494Asp
XM_005259271.3:c.1320G>C	XP_005259328.1:p.Glu440Asp
XM_005259272.3:c.1320G>C	XP_005259329.1:p.Glu440Asp
XM_005259273.3:c.1320G>C	XP_005259330.1:p.Glu440Asp
XM_006723392.2:c.1320G>C	XP_006723455.1:p.Glu440Asp
XM_006723393.2:c.1320G>C	XP_006723456.1:p.Glu440Asp
XM_011527334.1:c.1320G>C	XP_011525636.1:p.Glu440Asp
XM_011527335.1:c.1179G>C	XP_011525637.1:p.Glu393Asp
XM_011527336.1:c.1350G>C	XP_011525638.1:p.Glu450Asp
XM_011527337.1:c.1320G>C	XP_011525639.1:p.Glu440Asp
XM_011527338.1:c.1320G>C	XP_011525640.1:p.Glu440Asp
NM_024876.4:c.1320G>C MANE Select	NP_079152.3:p.Glu440Asp
NM_001142555.3:c.1197G>C	NP_001136027.1:p.Glu399Asp