Canonical Allele Identifier: CA145478

Gene: COQ8B

Linked Data

• ClinVar Variation Id: 91851
• ClinVar RCV Id: RCV000077759
• dbSNP Id: rs398122983
• MyVariant Identifiers: chr19:g.41198213_41198219del (hg19) ; chr19:g.40692308_40692314del (hg38)
• PubMed: PMID:24270420 ; PMID:28125198

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692308_40692314del , CM000681.2:g.40692308_40692314del	GRCh38
NC_000019.9:g.41198213_41198219del , CM000681.1:g.41198213_41198219del	GRCh37
NC_000019.8:g.45890053_45890059del	NCBI36
NG_027800.1:g.29572_29578del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.1356_1362del MANE Select	ENSP00000315118.3:p.Gln452HisfsTer?
ENST00000593724.2:n.3179_3185del
ENST00000594490.6:c.1278_1284del	ENSP00000471310.2:p.Gln426HisfsTer?
ENST00000594720.6:c.1356_1362del	ENSP00000470876.2:p.Gln452HisfsTer?
ENST00000596455.6:n.1648_1654del
ENST00000601967.6:c.1356_1362del	ENSP00000470916.2:p.Gln452HisfsTer?
ENST00000676555.1:c.*781_*787del	ENSP00000503387.1:n.*781_*787del
ENST00000676578.1:c.*1098_*1104del	ENSP00000504076.1:n.*1098_*1104del
ENST00000676960.1:n.1481_1487del
ENST00000676962.1:n.1635_1641del
ENST00000677018.1:c.1356_1362del	ENSP00000503480.1:p.Gln452HisfsTer?
ENST00000677039.1:n.3559_3565del
ENST00000677399.1:n.1798_1804del
ENST00000677496.1:c.1029_1035del	ENSP00000504773.1:p.Gln343HisfsTer?
ENST00000677517.1:c.1029_1035del	ENSP00000503519.1:p.Gln343HisfsTer?
ENST00000677633.1:c.*779_*785del	ENSP00000503645.1:n.*779_*785del
ENST00000677800.1:c.*4460_*4466del	ENSP00000503794.1:n.*4460_*4466del
ENST00000678057.1:c.*920_*926del	ENSP00000503762.1:n.*920_*926del
ENST00000678119.1:n.1550_1556del
ENST00000678166.1:n.1499_1505del
ENST00000678312.1:n.1693_1699del
ENST00000678316.1:c.*779_*785del	ENSP00000504112.1:n.*779_*785del
ENST00000678371.1:n.1806_1812del
ENST00000678404.1:c.1356_1362del	ENSP00000503944.1:p.Gln452HisfsTer?
ENST00000678419.1:c.1356_1362del	ENSP00000504085.1:p.Gln452HisfsTer?
ENST00000678433.1:n.1712_1718del
ENST00000678467.1:c.1356_1362del	ENSP00000504072.1:p.Gln452HisfsTer?
ENST00000678569.1:c.*341_*347del	ENSP00000504261.1:n.*341_*347del
ENST00000678961.1:n.1711_1717del
ENST00000679002.1:n.1535_1541del
ENST00000679012.1:c.912_918del	ENSP00000504446.1:p.Gln304HisfsTer?
ENST00000679070.1:c.*775_*781del	ENSP00000503759.1:n.*775_*781del
ENST00000679130.1:c.1356_1362del	ENSP00000504845.1:p.Gln452HisfsTer?
ENST00000679315.1:c.*1186_*1192del	ENSP00000503065.1:n.*1186_*1192del
ENST00000243583.10:c.1233_1239del	ENSP00000243583.5:p.Gln411HisfsTer?
ENST00000324464.7:c.1356_1362del	ENSP00000315118.3:p.Gln452HisfsTer?
ENST00000593724.1:n.1471_1477del
NM_001142555.2:c.1233_1239del	NP_001136027.1:p.Gln411HisfsTer?
NM_024876.3:c.1356_1362del	NP_079152.3:p.Gln452HisfsTer?
XM_005259270.3:c.1518_1524del	XP_005259327.2:p.Gln506HisfsTer?
XM_005259271.3:c.1356_1362del	XP_005259328.1:p.Gln452HisfsTer?
XM_005259272.3:c.1356_1362del	XP_005259329.1:p.Gln452HisfsTer?
XM_005259273.3:c.1356_1362del	XP_005259330.1:p.Gln452HisfsTer?
XM_006723392.2:c.1356_1362del	XP_006723455.1:p.Gln452HisfsTer?
XM_006723393.2:c.1356_1362del	XP_006723456.1:p.Gln452HisfsTer?
XM_011527334.1:c.1356_1362del	XP_011525636.1:p.Gln452HisfsTer?
XM_011527335.1:c.1215_1221del	XP_011525637.1:p.Gln405HisfsTer?
XM_011527336.1:c.1386_1392del	XP_011525638.1:p.Gln462HisfsTer?
XM_011527337.1:c.1356_1362del	XP_011525639.1:p.Gln452HisfsTer?
XM_011527338.1:c.1356_1362del	XP_011525640.1:p.Gln452HisfsTer?
NM_024876.4:c.1356_1362del MANE Select	NP_079152.3:p.Gln452HisfsTer?
NM_001142555.3:c.1233_1239del	NP_001136027.1:p.Gln411HisfsTer?