Canonical Allele Identifier: CA882266936

Gene: COQ8B

Linked Data

• dbSNP Id: rs1363697249
• gnomAD v3: 19-40691788-ATAAGT-A
• gnomAD v4: 19-40691788-ATAAGT-A
• MyVariant Identifiers: chr19:g.41197694_41197698del (hg19) ; chr19:g.40691789_40691793del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40691792_40691796del , CM000681.2:g.40691792_40691796del	GRCh38
NC_000019.9:g.41197697_41197701del , CM000681.1:g.41197697_41197701del	GRCh37
NC_000019.8:g.45889537_45889541del	NCBI36
NG_027800.1:g.30093_30097del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.*242_*246del MANE Select	ENSP00000315118.3:n.*242_*246del
ENST00000593724.2:n.3700_3704del
ENST00000594490.6:c.*242_*246del	ENSP00000471310.2:n.*242_*246del
ENST00000594720.6:c.*242_*246del	ENSP00000470876.2:n.*242_*246del
ENST00000596455.6:n.2169_2173del
ENST00000601967.6:c.*242_*246del	ENSP00000470916.2:n.*242_*246del
ENST00000676555.1:c.*1302_*1306del	ENSP00000503387.1:n.*1302_*1306del
ENST00000676578.1:c.*1619_*1623del	ENSP00000504076.1:n.*1619_*1623del
ENST00000676960.1:n.2002_2006del
ENST00000676962.1:n.2156_2160del
ENST00000677018.1:c.*242_*246del	ENSP00000503480.1:n.*242_*246del
ENST00000677039.1:n.4080_4084del
ENST00000677399.1:n.2319_2323del
ENST00000677496.1:c.*242_*246del	ENSP00000504773.1:n.*242_*246del
ENST00000677517.1:c.*242_*246del	ENSP00000503519.1:n.*242_*246del
ENST00000677633.1:c.*1300_*1304del	ENSP00000503645.1:n.*1300_*1304del
ENST00000677800.1:c.*4981_*4985del	ENSP00000503794.1:n.*4981_*4985del
ENST00000678057.1:c.*1441_*1445del	ENSP00000503762.1:n.*1441_*1445del
ENST00000678119.1:n.2071_2075del
ENST00000678166.1:n.2020_2024del
ENST00000678312.1:n.2214_2218del
ENST00000678316.1:c.*1300_*1304del	ENSP00000504112.1:n.*1300_*1304del
ENST00000678371.1:n.2327_2331del
ENST00000678404.1:c.*242_*246del	ENSP00000503944.1:n.*242_*246del
ENST00000678419.1:c.*242_*246del	ENSP00000504085.1:n.*242_*246del
ENST00000678433.1:n.2233_2237del
ENST00000678467.1:c.*242_*246del	ENSP00000504072.1:n.*242_*246del
ENST00000678569.1:c.*862_*866del	ENSP00000504261.1:n.*862_*866del
ENST00000678961.1:n.2232_2236del
ENST00000679002.1:n.2056_2060del
ENST00000679012.1:c.*242_*246del	ENSP00000504446.1:n.*242_*246del
ENST00000679070.1:c.*1296_*1300del	ENSP00000503759.1:n.*1296_*1300del
ENST00000679130.1:c.*242_*246del	ENSP00000504845.1:n.*242_*246del
ENST00000679315.1:c.*1707_*1711del	ENSP00000503065.1:n.*1707_*1711del
ENST00000243583.10:c.*242_*246del	ENSP00000243583.5:n.*242_*246del
ENST00000324464.7:c.*242_*246del	ENSP00000315118.3:n.*242_*246del
ENST00000593724.1:n.1992_1996del
NM_001142555.2:c.*242_*246del	NP_001136027.1:n.*242_*246del
NM_024876.3:c.*242_*246del	NP_079152.3:n.*242_*246del
XM_005259270.3:c.*242_*246del	XP_005259327.2:n.*242_*246del
XM_005259271.3:c.*242_*246del	XP_005259328.1:n.*242_*246del
XM_005259272.3:c.*242_*246del	XP_005259329.1:n.*242_*246del
XM_005259273.3:c.*242_*246del	XP_005259330.1:n.*242_*246del
XM_006723392.2:c.*242_*246del	XP_006723455.1:n.*242_*246del
XM_006723393.2:c.*242_*246del	XP_006723456.1:n.*242_*246del
XM_011527334.1:c.*242_*246del	XP_011525636.1:n.*242_*246del
XM_011527335.1:c.*242_*246del	XP_011525637.1:n.*242_*246del
XM_011527336.1:c.*242_*246del	XP_011525638.1:n.*242_*246del
XM_011527337.1:c.*242_*246del	XP_011525639.1:n.*242_*246del
XM_011527338.1:c.*242_*246del	XP_011525640.1:n.*242_*246del
NM_024876.4:c.*242_*246del MANE Select	NP_079152.3:n.*242_*246del
NM_001142555.3:c.*242_*246del	NP_001136027.1:n.*242_*246del