Canonical Allele Identifier: CA405957470

Gene: COQ8B

Linked Data

• MyVariant Identifiers: chr19:g.41198051G>C (hg19) ; chr19:g.40692146G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692146G>C , CM000681.2:g.40692146G>C	GRCh38
NC_000019.9:g.41198051G>C , CM000681.1:g.41198051G>C	GRCh37
NC_000019.8:g.45889891G>C	NCBI36
NG_027800.1:g.29740C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000324464.8:c.1524C>G MANE Select	ENSP00000315118.3:p.Cys508Trp
ENST00000593724.2:n.3347C>G
ENST00000594490.6:c.1446C>G	ENSP00000471310.2:p.Cys482Trp
ENST00000594720.6:c.1524C>G	ENSP00000470876.2:p.Cys508Trp
ENST00000596455.6:n.1816C>G
ENST00000601967.6:c.1524C>G	ENSP00000470916.2:p.Cys508Trp
ENST00000676555.1:c.*949C>G	ENSP00000503387.1:n.*949C>G
ENST00000676578.1:c.*1266C>G	ENSP00000504076.1:n.*1266C>G
ENST00000676960.1:n.1649C>G
ENST00000676962.1:n.1803C>G
ENST00000677018.1:c.1524C>G	ENSP00000503480.1:p.Cys508Trp
ENST00000677039.1:n.3727C>G
ENST00000677399.1:n.1966C>G
ENST00000677496.1:c.1197C>G	ENSP00000504773.1:p.Cys399Trp
ENST00000677517.1:c.1197C>G	ENSP00000503519.1:p.Cys399Trp
ENST00000677633.1:c.*947C>G	ENSP00000503645.1:n.*947C>G
ENST00000677800.1:c.*4628C>G	ENSP00000503794.1:n.*4628C>G
ENST00000678057.1:c.*1088C>G	ENSP00000503762.1:n.*1088C>G
ENST00000678119.1:n.1718C>G
ENST00000678166.1:n.1667C>G
ENST00000678312.1:n.1861C>G
ENST00000678316.1:c.*947C>G	ENSP00000504112.1:n.*947C>G
ENST00000678371.1:n.1974C>G
ENST00000678404.1:c.1524C>G	ENSP00000503944.1:p.Cys508Trp
ENST00000678419.1:c.1524C>G	ENSP00000504085.1:p.Cys508Trp
ENST00000678433.1:n.1880C>G
ENST00000678467.1:c.1524C>G	ENSP00000504072.1:p.Cys508Trp
ENST00000678569.1:c.*509C>G	ENSP00000504261.1:n.*509C>G
ENST00000678961.1:n.1879C>G
ENST00000679002.1:n.1703C>G
ENST00000679012.1:c.1080C>G	ENSP00000504446.1:p.Cys360Trp
ENST00000679070.1:c.*943C>G	ENSP00000503759.1:n.*943C>G
ENST00000679130.1:c.1524C>G	ENSP00000504845.1:p.Cys508Trp
ENST00000679315.1:c.*1354C>G	ENSP00000503065.1:n.*1354C>G
ENST00000243583.10:c.1401C>G	ENSP00000243583.5:p.Cys467Trp
ENST00000324464.7:c.1524C>G	ENSP00000315118.3:p.Cys508Trp
ENST00000593724.1:n.1639C>G
NM_001142555.2:c.1401C>G	NP_001136027.1:p.Cys467Trp
NM_024876.3:c.1524C>G	NP_079152.3:p.Cys508Trp
XM_005259270.3:c.1686C>G	XP_005259327.2:p.Cys562Trp
XM_005259271.3:c.1524C>G	XP_005259328.1:p.Cys508Trp
XM_005259272.3:c.1524C>G	XP_005259329.1:p.Cys508Trp
XM_005259273.3:c.1524C>G	XP_005259330.1:p.Cys508Trp
XM_006723392.2:c.1524C>G	XP_006723455.1:p.Cys508Trp
XM_006723393.2:c.1524C>G	XP_006723456.1:p.Cys508Trp
XM_011527334.1:c.1524C>G	XP_011525636.1:p.Cys508Trp
XM_011527335.1:c.1383C>G	XP_011525637.1:p.Cys461Trp
XM_011527336.1:c.1554C>G	XP_011525638.1:p.Cys518Trp
XM_011527337.1:c.1524C>G	XP_011525639.1:p.Cys508Trp
XM_011527338.1:c.1524C>G	XP_011525640.1:p.Cys508Trp
NM_024876.4:c.1524C>G MANE Select	NP_079152.3:p.Cys508Trp
NM_001142555.3:c.1401C>G	NP_001136027.1:p.Cys467Trp