Canonical Allele Identifier: CA405957342

Gene: COQ8B

Linked Data

• ClinVar Variation Id: 1903379
• ClinVar RCV Id: RCV002586299
• dbSNP Id: rs1200732748
• gnomAD v2: 19-41197992-G-C
• gnomAD v4: 19-40692087-G-C
• MyVariant Identifiers: chr19:g.41197992G>C (hg19) ; chr19:g.40692087G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692087G>C , CM000681.2:g.40692087G>C	GRCh38
NC_000019.9:g.41197992G>C , CM000681.1:g.41197992G>C	GRCh37
NC_000019.8:g.45889832G>C	NCBI36
NG_027800.1:g.29799C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.1583C>G MANE Select	ENSP00000315118.3:p.Ala528Gly
ENST00000593724.2:n.3406C>G
ENST00000594490.6:c.1505C>G	ENSP00000471310.2:p.Ala502Gly
ENST00000594720.6:c.1583C>G	ENSP00000470876.2:p.Ala528Gly
ENST00000596455.6:n.1875C>G
ENST00000601967.6:c.1583C>G	ENSP00000470916.2:p.Ala528Gly
ENST00000676555.1:c.*1008C>G	ENSP00000503387.1:n.*1008C>G
ENST00000676578.1:c.*1325C>G	ENSP00000504076.1:n.*1325C>G
ENST00000676960.1:n.1708C>G
ENST00000676962.1:n.1862C>G
ENST00000677018.1:c.1583C>G	ENSP00000503480.1:p.Ala528Gly
ENST00000677039.1:n.3786C>G
ENST00000677399.1:n.2025C>G
ENST00000677496.1:c.1256C>G	ENSP00000504773.1:p.Ala419Gly
ENST00000677517.1:c.1256C>G	ENSP00000503519.1:p.Ala419Gly
ENST00000677633.1:c.*1006C>G	ENSP00000503645.1:n.*1006C>G
ENST00000677800.1:c.*4687C>G	ENSP00000503794.1:n.*4687C>G
ENST00000678057.1:c.*1147C>G	ENSP00000503762.1:n.*1147C>G
ENST00000678119.1:n.1777C>G
ENST00000678166.1:n.1726C>G
ENST00000678312.1:n.1920C>G
ENST00000678316.1:c.*1006C>G	ENSP00000504112.1:n.*1006C>G
ENST00000678371.1:n.2033C>G
ENST00000678404.1:c.1583C>G	ENSP00000503944.1:p.Ala528Gly
ENST00000678419.1:c.1583C>G	ENSP00000504085.1:p.Ala528Gly
ENST00000678433.1:n.1939C>G
ENST00000678467.1:c.1583C>G	ENSP00000504072.1:p.Ala528Gly
ENST00000678569.1:c.*568C>G	ENSP00000504261.1:n.*568C>G
ENST00000678961.1:n.1938C>G
ENST00000679002.1:n.1762C>G
ENST00000679012.1:c.1139C>G	ENSP00000504446.1:p.Ala380Gly
ENST00000679070.1:c.*1002C>G	ENSP00000503759.1:n.*1002C>G
ENST00000679130.1:c.1583C>G	ENSP00000504845.1:p.Ala528Gly
ENST00000679315.1:c.*1413C>G	ENSP00000503065.1:n.*1413C>G
ENST00000243583.10:c.1460C>G	ENSP00000243583.5:p.Ala487Gly
ENST00000324464.7:c.1583C>G	ENSP00000315118.3:p.Ala528Gly
ENST00000593724.1:n.1698C>G
NM_001142555.2:c.1460C>G	NP_001136027.1:p.Ala487Gly
NM_024876.3:c.1583C>G	NP_079152.3:p.Ala528Gly
XM_005259270.3:c.1745C>G	XP_005259327.2:p.Ala582Gly
XM_005259271.3:c.1583C>G	XP_005259328.1:p.Ala528Gly
XM_005259272.3:c.1583C>G	XP_005259329.1:p.Ala528Gly
XM_005259273.3:c.1583C>G	XP_005259330.1:p.Ala528Gly
XM_006723392.2:c.1583C>G	XP_006723455.1:p.Ala528Gly
XM_006723393.2:c.1583C>G	XP_006723456.1:p.Ala528Gly
XM_011527334.1:c.1583C>G	XP_011525636.1:p.Ala528Gly
XM_011527335.1:c.1442C>G	XP_011525637.1:p.Ala481Gly
XM_011527336.1:c.1613C>G	XP_011525638.1:p.Ala538Gly
XM_011527337.1:c.1583C>G	XP_011525639.1:p.Ala528Gly
XM_011527338.1:c.1583C>G	XP_011525640.1:p.Ala528Gly
NM_024876.4:c.1583C>G MANE Select	NP_079152.3:p.Ala528Gly
NM_001142555.3:c.1460C>G	NP_001136027.1:p.Ala487Gly