Canonical Allele Identifier: CA405960857

Gene: COQ8B

Linked Data

• dbSNP Id: rs1433066805
• gnomAD v4: 19-40700380-A-T
• MyVariant Identifiers: chr19:g.41206285A>T (hg19) ; chr19:g.40700380A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40700380A>T , CM000681.2:g.40700380A>T	GRCh38
NC_000019.9:g.41206285A>T , CM000681.1:g.41206285A>T	GRCh37
NC_000019.8:g.45898125A>T	NCBI36
NG_027800.1:g.21506T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.965T>A MANE Select	ENSP00000315118.3:p.Leu322Gln
ENST00000593724.2:n.2788T>A
ENST00000594490.6:c.887T>A	ENSP00000471310.2:p.Leu296Gln
ENST00000594720.6:c.965T>A	ENSP00000470876.2:p.Leu322Gln
ENST00000596455.6:n.1257T>A
ENST00000601967.6:c.965T>A	ENSP00000470916.2:p.Leu322Gln
ENST00000676555.1:c.965T>A	ENSP00000503387.1:p.Leu322Gln
ENST00000676578.1:c.*707T>A	ENSP00000504076.1:n.*707T>A
ENST00000676960.1:n.1090T>A
ENST00000676962.1:n.1244T>A
ENST00000677018.1:c.965T>A	ENSP00000503480.1:p.Leu322Gln
ENST00000677039.1:n.3168T>A
ENST00000677399.1:n.1407T>A
ENST00000677496.1:c.638T>A	ENSP00000504773.1:p.Leu213Gln
ENST00000677517.1:c.638T>A	ENSP00000503519.1:p.Leu213Gln
ENST00000677633.1:c.*388T>A	ENSP00000503645.1:n.*388T>A
ENST00000677800.1:c.*4069T>A	ENSP00000503794.1:n.*4069T>A
ENST00000678057.1:c.*529T>A	ENSP00000503762.1:n.*529T>A
ENST00000678119.1:n.1159T>A
ENST00000678166.1:n.1108T>A
ENST00000678312.1:n.1302T>A
ENST00000678316.1:c.*388T>A	ENSP00000504112.1:n.*388T>A
ENST00000678371.1:n.1415T>A
ENST00000678404.1:c.965T>A	ENSP00000503944.1:p.Leu322Gln
ENST00000678419.1:c.965T>A	ENSP00000504085.1:p.Leu322Gln
ENST00000678433.1:n.1321T>A
ENST00000678467.1:c.965T>A	ENSP00000504072.1:p.Leu322Gln
ENST00000678569.1:c.961T>A	ENSP00000504261.1:p.Trp321Arg
ENST00000678961.1:n.1320T>A
ENST00000679002.1:n.1144T>A
ENST00000679012.1:c.521T>A	ENSP00000504446.1:p.Leu174Gln
ENST00000679070.1:c.*384T>A	ENSP00000503759.1:n.*384T>A
ENST00000679130.1:c.965T>A	ENSP00000504845.1:p.Leu322Gln
ENST00000679315.1:c.*795T>A	ENSP00000503065.1:n.*795T>A
ENST00000243583.10:c.842T>A	ENSP00000243583.5:p.Leu281Gln
ENST00000324464.7:c.965T>A	ENSP00000315118.3:p.Leu322Gln
ENST00000593724.1:n.1080T>A
NM_001142555.2:c.842T>A	NP_001136027.1:p.Leu281Gln
NM_024876.3:c.965T>A	NP_079152.3:p.Leu322Gln
XM_005259270.3:c.1127T>A	XP_005259327.2:p.Leu376Gln
XM_005259271.3:c.965T>A	XP_005259328.1:p.Leu322Gln
XM_005259272.3:c.965T>A	XP_005259329.1:p.Leu322Gln
XM_005259273.3:c.965T>A	XP_005259330.1:p.Leu322Gln
XM_006723392.2:c.965T>A	XP_006723455.1:p.Leu322Gln
XM_006723393.2:c.965T>A	XP_006723456.1:p.Leu322Gln
XM_011527334.1:c.965T>A	XP_011525636.1:p.Leu322Gln
XM_011527335.1:c.824T>A	XP_011525637.1:p.Leu275Gln
XM_011527336.1:c.995T>A	XP_011525638.1:p.Leu332Gln
XM_011527337.1:c.965T>A	XP_011525639.1:p.Leu322Gln
XM_011527338.1:c.965T>A	XP_011525640.1:p.Leu322Gln
NM_024876.4:c.965T>A MANE Select	NP_079152.3:p.Leu322Gln
NM_001142555.3:c.842T>A	NP_001136027.1:p.Leu281Gln