Canonical Allele Identifier: CA405957439

Gene: COQ8B

Linked Data

• dbSNP Id: rs1452429975
• gnomAD v3: 19-40692133-G-A
• gnomAD v4: 19-40692133-G-A
• MyVariant Identifiers: chr19:g.41198038G>A (hg19) ; chr19:g.40692133G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692133G>A , CM000681.2:g.40692133G>A	GRCh38
NC_000019.9:g.41198038G>A , CM000681.1:g.41198038G>A	GRCh37
NC_000019.8:g.45889878G>A	NCBI36
NG_027800.1:g.29753C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000324464.8:c.1537C>T MANE Select	ENSP00000315118.3:p.Gln513Ter
ENST00000593724.2:n.3360C>T
ENST00000594490.6:c.1459C>T	ENSP00000471310.2:p.Gln487Ter
ENST00000594720.6:c.1537C>T	ENSP00000470876.2:p.Gln513Ter
ENST00000596455.6:n.1829C>T
ENST00000601967.6:c.1537C>T	ENSP00000470916.2:p.Gln513Ter
ENST00000676555.1:c.*962C>T	ENSP00000503387.1:n.*962C>T
ENST00000676578.1:c.*1279C>T	ENSP00000504076.1:n.*1279C>T
ENST00000676960.1:n.1662C>T
ENST00000676962.1:n.1816C>T
ENST00000677018.1:c.1537C>T	ENSP00000503480.1:p.Gln513Ter
ENST00000677039.1:n.3740C>T
ENST00000677399.1:n.1979C>T
ENST00000677496.1:c.1210C>T	ENSP00000504773.1:p.Gln404Ter
ENST00000677517.1:c.1210C>T	ENSP00000503519.1:p.Gln404Ter
ENST00000677633.1:c.*960C>T	ENSP00000503645.1:n.*960C>T
ENST00000677800.1:c.*4641C>T	ENSP00000503794.1:n.*4641C>T
ENST00000678057.1:c.*1101C>T	ENSP00000503762.1:n.*1101C>T
ENST00000678119.1:n.1731C>T
ENST00000678166.1:n.1680C>T
ENST00000678312.1:n.1874C>T
ENST00000678316.1:c.*960C>T	ENSP00000504112.1:n.*960C>T
ENST00000678371.1:n.1987C>T
ENST00000678404.1:c.1537C>T	ENSP00000503944.1:p.Gln513Ter
ENST00000678419.1:c.1537C>T	ENSP00000504085.1:p.Gln513Ter
ENST00000678433.1:n.1893C>T
ENST00000678467.1:c.1537C>T	ENSP00000504072.1:p.Gln513Ter
ENST00000678569.1:c.*522C>T	ENSP00000504261.1:n.*522C>T
ENST00000678961.1:n.1892C>T
ENST00000679002.1:n.1716C>T
ENST00000679012.1:c.1093C>T	ENSP00000504446.1:p.Gln365Ter
ENST00000679070.1:c.*956C>T	ENSP00000503759.1:n.*956C>T
ENST00000679130.1:c.1537C>T	ENSP00000504845.1:p.Gln513Ter
ENST00000679315.1:c.*1367C>T	ENSP00000503065.1:n.*1367C>T
ENST00000243583.10:c.1414C>T	ENSP00000243583.5:p.Gln472Ter
ENST00000324464.7:c.1537C>T	ENSP00000315118.3:p.Gln513Ter
ENST00000593724.1:n.1652C>T
NM_001142555.2:c.1414C>T	NP_001136027.1:p.Gln472Ter
NM_024876.3:c.1537C>T	NP_079152.3:p.Gln513Ter
XM_005259270.3:c.1699C>T	XP_005259327.2:p.Gln567Ter
XM_005259271.3:c.1537C>T	XP_005259328.1:p.Gln513Ter
XM_005259272.3:c.1537C>T	XP_005259329.1:p.Gln513Ter
XM_005259273.3:c.1537C>T	XP_005259330.1:p.Gln513Ter
XM_006723392.2:c.1537C>T	XP_006723455.1:p.Gln513Ter
XM_006723393.2:c.1537C>T	XP_006723456.1:p.Gln513Ter
XM_011527334.1:c.1537C>T	XP_011525636.1:p.Gln513Ter
XM_011527335.1:c.1396C>T	XP_011525637.1:p.Gln466Ter
XM_011527336.1:c.1567C>T	XP_011525638.1:p.Gln523Ter
XM_011527337.1:c.1537C>T	XP_011525639.1:p.Gln513Ter
XM_011527338.1:c.1537C>T	XP_011525640.1:p.Gln513Ter
NM_024876.4:c.1537C>T MANE Select	NP_079152.3:p.Gln513Ter
NM_001142555.3:c.1414C>T	NP_001136027.1:p.Gln472Ter