Canonical Allele Identifier: CA9450023

Gene: COQ8B

Linked Data

• dbSNP Id: rs747478366
• ExAC: 19:41198200 A / C
• gnomAD v2: 19-41198200-A-C
• gnomAD v3: 19-40692295-A-C
• gnomAD v4: 19-40692295-A-C
• MyVariant Identifiers: chr19:g.41198200A>C (hg19) ; chr19:g.40692295A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692295A>C , CM000681.2:g.40692295A>C	GRCh38
NC_000019.9:g.41198200A>C , CM000681.1:g.41198200A>C	GRCh37
NC_000019.8:g.45890040A>C	NCBI36
NG_027800.1:g.29591T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.1375T>G MANE Select	ENSP00000315118.3:p.Ser459Ala
ENST00000593724.2:n.3198T>G
ENST00000594490.6:c.1297T>G	ENSP00000471310.2:p.Ser433Ala
ENST00000594720.6:c.1375T>G	ENSP00000470876.2:p.Ser459Ala
ENST00000596455.6:n.1667T>G
ENST00000601967.6:c.1375T>G	ENSP00000470916.2:p.Ser459Ala
ENST00000676555.1:c.*800T>G	ENSP00000503387.1:n.*800T>G
ENST00000676578.1:c.*1117T>G	ENSP00000504076.1:n.*1117T>G
ENST00000676960.1:n.1500T>G
ENST00000676962.1:n.1654T>G
ENST00000677018.1:c.1375T>G	ENSP00000503480.1:p.Ser459Ala
ENST00000677039.1:n.3578T>G
ENST00000677399.1:n.1817T>G
ENST00000677496.1:c.1048T>G	ENSP00000504773.1:p.Ser350Ala
ENST00000677517.1:c.1048T>G	ENSP00000503519.1:p.Ser350Ala
ENST00000677633.1:c.*798T>G	ENSP00000503645.1:n.*798T>G
ENST00000677800.1:c.*4479T>G	ENSP00000503794.1:n.*4479T>G
ENST00000678057.1:c.*939T>G	ENSP00000503762.1:n.*939T>G
ENST00000678119.1:n.1569T>G
ENST00000678166.1:n.1518T>G
ENST00000678312.1:n.1712T>G
ENST00000678316.1:c.*798T>G	ENSP00000504112.1:n.*798T>G
ENST00000678371.1:n.1825T>G
ENST00000678404.1:c.1375T>G	ENSP00000503944.1:p.Ser459Ala
ENST00000678419.1:c.1375T>G	ENSP00000504085.1:p.Ser459Ala
ENST00000678433.1:n.1731T>G
ENST00000678467.1:c.1375T>G	ENSP00000504072.1:p.Ser459Ala
ENST00000678569.1:c.*360T>G	ENSP00000504261.1:n.*360T>G
ENST00000678961.1:n.1730T>G
ENST00000679002.1:n.1554T>G
ENST00000679012.1:c.931T>G	ENSP00000504446.1:p.Ser311Ala
ENST00000679070.1:c.*794T>G	ENSP00000503759.1:n.*794T>G
ENST00000679130.1:c.1375T>G	ENSP00000504845.1:p.Ser459Ala
ENST00000679315.1:c.*1205T>G	ENSP00000503065.1:n.*1205T>G
ENST00000243583.10:c.1252T>G	ENSP00000243583.5:p.Ser418Ala
ENST00000324464.7:c.1375T>G	ENSP00000315118.3:p.Ser459Ala
ENST00000593724.1:n.1490T>G
NM_001142555.2:c.1252T>G	NP_001136027.1:p.Ser418Ala
NM_024876.3:c.1375T>G	NP_079152.3:p.Ser459Ala
XM_005259270.3:c.1537T>G	XP_005259327.2:p.Ser513Ala
XM_005259271.3:c.1375T>G	XP_005259328.1:p.Ser459Ala
XM_005259272.3:c.1375T>G	XP_005259329.1:p.Ser459Ala
XM_005259273.3:c.1375T>G	XP_005259330.1:p.Ser459Ala
XM_006723392.2:c.1375T>G	XP_006723455.1:p.Ser459Ala
XM_006723393.2:c.1375T>G	XP_006723456.1:p.Ser459Ala
XM_011527334.1:c.1375T>G	XP_011525636.1:p.Ser459Ala
XM_011527335.1:c.1234T>G	XP_011525637.1:p.Ser412Ala
XM_011527336.1:c.1405T>G	XP_011525638.1:p.Ser469Ala
XM_011527337.1:c.1375T>G	XP_011525639.1:p.Ser459Ala
XM_011527338.1:c.1375T>G	XP_011525640.1:p.Ser459Ala
NM_024876.4:c.1375T>G MANE Select	NP_079152.3:p.Ser459Ala
NM_001142555.3:c.1252T>G	NP_001136027.1:p.Ser418Ala