Canonical Allele Identifier: CA633125535

Gene: COQ8B

Linked Data

• dbSNP Id: rs1424376705
• gnomAD v2: 19-41209697-GC-G
• gnomAD v4: 19-40703792-GC-G
• MyVariant Identifiers: chr19:g.41209698del (hg19) ; chr19:g.40703793del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40703793del , CM000681.2:g.40703793del	GRCh38
NC_000019.9:g.41209698del , CM000681.1:g.41209698del	GRCh37
NC_000019.8:g.45901538del	NCBI36
NG_027800.1:g.18093del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.639del MANE Select	ENSP00000315118.3:p.Phe215LeufsTer14
ENST00000593724.2:n.393-171del
ENST00000594490.6:c.561del	ENSP00000471310.2:p.Phe189LeufsTer14
ENST00000594720.6:c.639del	ENSP00000470876.2:p.Phe215LeufsTer14
ENST00000596455.6:n.931del
ENST00000601967.6:c.639del	ENSP00000470916.2:p.Phe215LeufsTer14
ENST00000676555.1:c.639del	ENSP00000503387.1:p.Phe215LeufsTer14
ENST00000676578.1:c.*381del	ENSP00000504076.1:n.*381del
ENST00000676960.1:n.764del
ENST00000676962.1:n.918del
ENST00000677018.1:c.639del	ENSP00000503480.1:p.Phe215LeufsTer14
ENST00000677039.1:n.694del
ENST00000677399.1:n.1081del
ENST00000677496.1:c.312del	ENSP00000504773.1:p.Phe106LeufsTer14
ENST00000677517.1:c.312del	ENSP00000503519.1:p.Phe106LeufsTer14
ENST00000677633.1:c.*62del	ENSP00000503645.1:n.*62del
ENST00000677800.1:c.*3743del	ENSP00000503794.1:n.*3743del
ENST00000678057.1:c.*203del	ENSP00000503762.1:n.*203del
ENST00000678119.1:n.833del
ENST00000678166.1:n.861-171del
ENST00000678312.1:n.976del
ENST00000678316.1:c.*62del	ENSP00000504112.1:n.*62del
ENST00000678371.1:n.997del
ENST00000678404.1:c.639del	ENSP00000503944.1:p.Phe215LeufsTer14
ENST00000678419.1:c.639del	ENSP00000504085.1:p.Phe215LeufsTer14
ENST00000678433.1:n.999del
ENST00000678467.1:c.639del	ENSP00000504072.1:p.Phe215LeufsTer14
ENST00000678569.1:c.639del	ENSP00000504261.1:p.Phe215LeufsTer14
ENST00000678961.1:n.822del
ENST00000679002.1:n.818del
ENST00000679012.1:c.195del	ENSP00000504446.1:p.Phe67LeufsTer14
ENST00000679070.1:c.*62del	ENSP00000503759.1:n.*62del
ENST00000679130.1:c.639del	ENSP00000504845.1:p.Phe215LeufsTer14
ENST00000679315.1:c.*469del	ENSP00000503065.1:n.*469del
ENST00000243583.10:c.516del	ENSP00000243583.5:p.Phe174LeufsTer14
ENST00000324464.7:c.639del	ENSP00000315118.3:p.Phe215LeufsTer14
ENST00000595254.5:c.312del	ENSP00000470894.1:p.Phe106LeufsTer14
ENST00000596455.5:n.759del
ENST00000599643.5:c.336-171del	ENSP00000471192.1:n.336-171del
ENST00000601304.5:c.*413del	ENSP00000472519.1:n.*413del
ENST00000601967.5:c.639del	ENSP00000470916.1:p.Phe215LeufsTer14
NM_001142555.2:c.516del	NP_001136027.1:p.Phe174LeufsTer14
NM_024876.3:c.639del	NP_079152.3:p.Phe215LeufsTer14
XM_005259270.3:c.801del	XP_005259327.2:p.Phe269LeufsTer14
XM_005259271.3:c.639del	XP_005259328.1:p.Phe215LeufsTer14
XM_005259272.3:c.639del	XP_005259329.1:p.Phe215LeufsTer14
XM_005259273.3:c.639del	XP_005259330.1:p.Phe215LeufsTer14
XM_006723392.2:c.639del	XP_006723455.1:p.Phe215LeufsTer14
XM_006723393.2:c.639del	XP_006723456.1:p.Phe215LeufsTer14
XM_011527334.1:c.639del	XP_011525636.1:p.Phe215LeufsTer14
XM_011527335.1:c.577-171del	XP_011525637.1:n.577-171del
XM_011527336.1:c.669del	XP_011525638.1:p.Phe225LeufsTer14
XM_011527337.1:c.639del	XP_011525639.1:p.Phe215LeufsTer14
XM_011527338.1:c.639del	XP_011525640.1:p.Phe215LeufsTer14
NM_024876.4:c.639del MANE Select	NP_079152.3:p.Phe215LeufsTer14
NM_001142555.3:c.516del	NP_001136027.1:p.Phe174LeufsTer14