Canonical Allele Identifier: CA405957837

Gene: COQ8B

Linked Data

• dbSNP Id: rs2081977773
• gnomAD v4: 19-40692292-C-G
• MyVariant Identifiers: chr19:g.41198197C>G (hg19) ; chr19:g.40692292C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692292C>G , CM000681.2:g.40692292C>G	GRCh38
NC_000019.9:g.41198197C>G , CM000681.1:g.41198197C>G	GRCh37
NC_000019.8:g.45890037C>G	NCBI36
NG_027800.1:g.29594G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.1378G>C MANE Select	ENSP00000315118.3:p.Gly460Arg
ENST00000593724.2:n.3201G>C
ENST00000594490.6:c.1300G>C	ENSP00000471310.2:p.Gly434Arg
ENST00000594720.6:c.1378G>C	ENSP00000470876.2:p.Gly460Arg
ENST00000596455.6:n.1670G>C
ENST00000601967.6:c.1378G>C	ENSP00000470916.2:p.Gly460Arg
ENST00000676555.1:c.*803G>C	ENSP00000503387.1:n.*803G>C
ENST00000676578.1:c.*1120G>C	ENSP00000504076.1:n.*1120G>C
ENST00000676960.1:n.1503G>C
ENST00000676962.1:n.1657G>C
ENST00000677018.1:c.1378G>C	ENSP00000503480.1:p.Gly460Arg
ENST00000677039.1:n.3581G>C
ENST00000677399.1:n.1820G>C
ENST00000677496.1:c.1051G>C	ENSP00000504773.1:p.Gly351Arg
ENST00000677517.1:c.1051G>C	ENSP00000503519.1:p.Gly351Arg
ENST00000677633.1:c.*801G>C	ENSP00000503645.1:n.*801G>C
ENST00000677800.1:c.*4482G>C	ENSP00000503794.1:n.*4482G>C
ENST00000678057.1:c.*942G>C	ENSP00000503762.1:n.*942G>C
ENST00000678119.1:n.1572G>C
ENST00000678166.1:n.1521G>C
ENST00000678312.1:n.1715G>C
ENST00000678316.1:c.*801G>C	ENSP00000504112.1:n.*801G>C
ENST00000678371.1:n.1828G>C
ENST00000678404.1:c.1378G>C	ENSP00000503944.1:p.Gly460Arg
ENST00000678419.1:c.1378G>C	ENSP00000504085.1:p.Gly460Arg
ENST00000678433.1:n.1734G>C
ENST00000678467.1:c.1378G>C	ENSP00000504072.1:p.Gly460Arg
ENST00000678569.1:c.*363G>C	ENSP00000504261.1:n.*363G>C
ENST00000678961.1:n.1733G>C
ENST00000679002.1:n.1557G>C
ENST00000679012.1:c.934G>C	ENSP00000504446.1:p.Gly312Arg
ENST00000679070.1:c.*797G>C	ENSP00000503759.1:n.*797G>C
ENST00000679130.1:c.1378G>C	ENSP00000504845.1:p.Gly460Arg
ENST00000679315.1:c.*1208G>C	ENSP00000503065.1:n.*1208G>C
ENST00000243583.10:c.1255G>C	ENSP00000243583.5:p.Gly419Arg
ENST00000324464.7:c.1378G>C	ENSP00000315118.3:p.Gly460Arg
ENST00000593724.1:n.1493G>C
NM_001142555.2:c.1255G>C	NP_001136027.1:p.Gly419Arg
NM_024876.3:c.1378G>C	NP_079152.3:p.Gly460Arg
XM_005259270.3:c.1540G>C	XP_005259327.2:p.Gly514Arg
XM_005259271.3:c.1378G>C	XP_005259328.1:p.Gly460Arg
XM_005259272.3:c.1378G>C	XP_005259329.1:p.Gly460Arg
XM_005259273.3:c.1378G>C	XP_005259330.1:p.Gly460Arg
XM_006723392.2:c.1378G>C	XP_006723455.1:p.Gly460Arg
XM_006723393.2:c.1378G>C	XP_006723456.1:p.Gly460Arg
XM_011527334.1:c.1378G>C	XP_011525636.1:p.Gly460Arg
XM_011527335.1:c.1237G>C	XP_011525637.1:p.Gly413Arg
XM_011527336.1:c.1408G>C	XP_011525638.1:p.Gly470Arg
XM_011527337.1:c.1378G>C	XP_011525639.1:p.Gly460Arg
XM_011527338.1:c.1378G>C	XP_011525640.1:p.Gly460Arg
NM_024876.4:c.1378G>C MANE Select	NP_079152.3:p.Gly460Arg
NM_001142555.3:c.1255G>C	NP_001136027.1:p.Gly419Arg