Canonical Allele Identifier: CA405957429

Gene: COQ8B

Linked Data

• MyVariant Identifiers: chr19:g.41198034T>C (hg19) ; chr19:g.40692129T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692129T>C , CM000681.2:g.40692129T>C	GRCh38
NC_000019.9:g.41198034T>C , CM000681.1:g.41198034T>C	GRCh37
NC_000019.8:g.45889874T>C	NCBI36
NG_027800.1:g.29757A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000324464.8:c.1541A>G MANE Select	ENSP00000315118.3:p.Asp514Gly
ENST00000593724.2:n.3364A>G
ENST00000594490.6:c.1463A>G	ENSP00000471310.2:p.Asp488Gly
ENST00000594720.6:c.1541A>G	ENSP00000470876.2:p.Asp514Gly
ENST00000596455.6:n.1833A>G
ENST00000601967.6:c.1541A>G	ENSP00000470916.2:p.Asp514Gly
ENST00000676555.1:c.*966A>G	ENSP00000503387.1:n.*966A>G
ENST00000676578.1:c.*1283A>G	ENSP00000504076.1:n.*1283A>G
ENST00000676960.1:n.1666A>G
ENST00000676962.1:n.1820A>G
ENST00000677018.1:c.1541A>G	ENSP00000503480.1:p.Asp514Gly
ENST00000677039.1:n.3744A>G
ENST00000677399.1:n.1983A>G
ENST00000677496.1:c.1214A>G	ENSP00000504773.1:p.Asp405Gly
ENST00000677517.1:c.1214A>G	ENSP00000503519.1:p.Asp405Gly
ENST00000677633.1:c.*964A>G	ENSP00000503645.1:n.*964A>G
ENST00000677800.1:c.*4645A>G	ENSP00000503794.1:n.*4645A>G
ENST00000678057.1:c.*1105A>G	ENSP00000503762.1:n.*1105A>G
ENST00000678119.1:n.1735A>G
ENST00000678166.1:n.1684A>G
ENST00000678312.1:n.1878A>G
ENST00000678316.1:c.*964A>G	ENSP00000504112.1:n.*964A>G
ENST00000678371.1:n.1991A>G
ENST00000678404.1:c.1541A>G	ENSP00000503944.1:p.Asp514Gly
ENST00000678419.1:c.1541A>G	ENSP00000504085.1:p.Asp514Gly
ENST00000678433.1:n.1897A>G
ENST00000678467.1:c.1541A>G	ENSP00000504072.1:p.Asp514Gly
ENST00000678569.1:c.*526A>G	ENSP00000504261.1:n.*526A>G
ENST00000678961.1:n.1896A>G
ENST00000679002.1:n.1720A>G
ENST00000679012.1:c.1097A>G	ENSP00000504446.1:p.Asp366Gly
ENST00000679070.1:c.*960A>G	ENSP00000503759.1:n.*960A>G
ENST00000679130.1:c.1541A>G	ENSP00000504845.1:p.Asp514Gly
ENST00000679315.1:c.*1371A>G	ENSP00000503065.1:n.*1371A>G
ENST00000243583.10:c.1418A>G	ENSP00000243583.5:p.Asp473Gly
ENST00000324464.7:c.1541A>G	ENSP00000315118.3:p.Asp514Gly
ENST00000593724.1:n.1656A>G
NM_001142555.2:c.1418A>G	NP_001136027.1:p.Asp473Gly
NM_024876.3:c.1541A>G	NP_079152.3:p.Asp514Gly
XM_005259270.3:c.1703A>G	XP_005259327.2:p.Asp568Gly
XM_005259271.3:c.1541A>G	XP_005259328.1:p.Asp514Gly
XM_005259272.3:c.1541A>G	XP_005259329.1:p.Asp514Gly
XM_005259273.3:c.1541A>G	XP_005259330.1:p.Asp514Gly
XM_006723392.2:c.1541A>G	XP_006723455.1:p.Asp514Gly
XM_006723393.2:c.1541A>G	XP_006723456.1:p.Asp514Gly
XM_011527334.1:c.1541A>G	XP_011525636.1:p.Asp514Gly
XM_011527335.1:c.1400A>G	XP_011525637.1:p.Asp467Gly
XM_011527336.1:c.1571A>G	XP_011525638.1:p.Asp524Gly
XM_011527337.1:c.1541A>G	XP_011525639.1:p.Asp514Gly
XM_011527338.1:c.1541A>G	XP_011525640.1:p.Asp514Gly
NM_024876.4:c.1541A>G MANE Select	NP_079152.3:p.Asp514Gly
NM_001142555.3:c.1418A>G	NP_001136027.1:p.Asp473Gly