Canonical Allele Identifier: CA9450205

Gene: COQ8B

Linked Data

• ClinVar Variation Id: 1502989
• ClinVar RCV Id: RCV002045314
• dbSNP Id: rs369004265
• ExAC: 19:41206307 C / T
• gnomAD v2: 19-41206307-C-T
• gnomAD v3: 19-40700402-C-T
• gnomAD v4: 19-40700402-C-T
• MyVariant Identifiers: chr19:g.41206307C>T (hg19) ; chr19:g.40700402C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40700402C>T , CM000681.2:g.40700402C>T	GRCh38
NC_000019.9:g.41206307C>T , CM000681.1:g.41206307C>T	GRCh37
NC_000019.8:g.45898147C>T	NCBI36
NG_027800.1:g.21484G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.943G>A MANE Select	ENSP00000315118.3:p.Glu315Lys
ENST00000593724.2:n.2766G>A
ENST00000594490.6:c.865G>A	ENSP00000471310.2:p.Glu289Lys
ENST00000594720.6:c.943G>A	ENSP00000470876.2:p.Glu315Lys
ENST00000596455.6:n.1235G>A
ENST00000601967.6:c.943G>A	ENSP00000470916.2:p.Glu315Lys
ENST00000676555.1:c.943G>A	ENSP00000503387.1:p.Glu315Lys
ENST00000676578.1:c.*685G>A	ENSP00000504076.1:n.*685G>A
ENST00000676960.1:n.1068G>A
ENST00000676962.1:n.1222G>A
ENST00000677018.1:c.943G>A	ENSP00000503480.1:p.Glu315Lys
ENST00000677039.1:n.3146G>A
ENST00000677399.1:n.1385G>A
ENST00000677496.1:c.616G>A	ENSP00000504773.1:p.Glu206Lys
ENST00000677517.1:c.616G>A	ENSP00000503519.1:p.Glu206Lys
ENST00000677633.1:c.*366G>A	ENSP00000503645.1:n.*366G>A
ENST00000677800.1:c.*4047G>A	ENSP00000503794.1:n.*4047G>A
ENST00000678057.1:c.*507G>A	ENSP00000503762.1:n.*507G>A
ENST00000678119.1:n.1137G>A
ENST00000678166.1:n.1086G>A
ENST00000678312.1:n.1280G>A
ENST00000678316.1:c.*366G>A	ENSP00000504112.1:n.*366G>A
ENST00000678371.1:n.1393G>A
ENST00000678404.1:c.943G>A	ENSP00000503944.1:p.Glu315Lys
ENST00000678419.1:c.943G>A	ENSP00000504085.1:p.Glu315Lys
ENST00000678433.1:n.1299G>A
ENST00000678467.1:c.943G>A	ENSP00000504072.1:p.Glu315Lys
ENST00000678569.1:c.939G>A	ENSP00000504261.1:p.Arg313=
ENST00000678961.1:n.1298G>A
ENST00000679002.1:n.1122G>A
ENST00000679012.1:c.499G>A	ENSP00000504446.1:p.Glu167Lys
ENST00000679070.1:c.*362G>A	ENSP00000503759.1:n.*362G>A
ENST00000679130.1:c.943G>A	ENSP00000504845.1:p.Glu315Lys
ENST00000679315.1:c.*773G>A	ENSP00000503065.1:n.*773G>A
ENST00000243583.10:c.820G>A	ENSP00000243583.5:p.Glu274Lys
ENST00000324464.7:c.943G>A	ENSP00000315118.3:p.Glu315Lys
ENST00000593724.1:n.1058G>A
NM_001142555.2:c.820G>A	NP_001136027.1:p.Glu274Lys
NM_024876.3:c.943G>A	NP_079152.3:p.Glu315Lys
XM_005259270.3:c.1105G>A	XP_005259327.2:p.Glu369Lys
XM_005259271.3:c.943G>A	XP_005259328.1:p.Glu315Lys
XM_005259272.3:c.943G>A	XP_005259329.1:p.Glu315Lys
XM_005259273.3:c.943G>A	XP_005259330.1:p.Glu315Lys
XM_006723392.2:c.943G>A	XP_006723455.1:p.Glu315Lys
XM_006723393.2:c.943G>A	XP_006723456.1:p.Glu315Lys
XM_011527334.1:c.943G>A	XP_011525636.1:p.Glu315Lys
XM_011527335.1:c.802G>A	XP_011525637.1:p.Glu268Lys
XM_011527336.1:c.973G>A	XP_011525638.1:p.Glu325Lys
XM_011527337.1:c.943G>A	XP_011525639.1:p.Glu315Lys
XM_011527338.1:c.943G>A	XP_011525640.1:p.Glu315Lys
NM_024876.4:c.943G>A MANE Select	NP_079152.3:p.Glu315Lys
NM_001142555.3:c.820G>A	NP_001136027.1:p.Glu274Lys