Canonical Allele Identifier: CA2650795569

Gene: COQ8A

Linked Data

• gnomAD v4: 1-226984584-C-CTGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226984585_226984588dup , CM000663.2:g.226984585_226984588dup	GRCh38
NC_000001.10:g.227172286_227172289dup , CM000663.1:g.227172286_227172289dup	GRCh37
NC_000001.9:g.225238909_225238912dup	NCBI36
NG_012825.1:g.49349_49352dup
NG_012825.2:g.92050_92053dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1436_1439dup MANE Select	ENSP00000355739.3:p.Glu481ValfsTer18
ENST00000366779.6:c.*6163_*6166dup	ENSP00000355741.2:n.*6163_*6166dup
ENST00000366777.3:c.1436_1439dup	ENSP00000355739.3:p.Glu481ValfsTer18
ENST00000366778.5:c.1280_1283dup	ENSP00000355740.1:p.Glu429ValfsTer18
ENST00000366779.5:c.1436_1439dup	ENSP00000355741.1:p.Glu481ValfsTer18
ENST00000478406.5:n.2298_2301dup
ENST00000479852.1:n.623_626dup
ENST00000485462.5:n.826_829dup
NM_020247.4:c.1436_1439dup	NP_064632.2:p.Glu481ValfsTer18
XM_005273201.1:c.1436_1439dup	XP_005273258.1:p.Glu481ValfsTer18
XM_011544238.1:c.1436_1439dup	XP_011542540.1:p.Glu481ValfsTer18
XM_011544239.1:c.1436_1439dup	XP_011542541.1:p.Glu481ValfsTer18
XM_011544240.1:c.1436_1439dup	XP_011542542.1:p.Glu481ValfsTer18
XM_011544241.1:c.1436_1439dup	XP_011542543.1:p.Glu481ValfsTer18
XM_011544239.2:c.1436_1439dup	XP_011542541.1:p.Glu481ValfsTer18
XM_011544241.2:c.1436_1439dup	XP_011542543.1:p.Glu481ValfsTer18
XM_017001852.1:c.1436_1439dup	XP_016857341.1:p.Glu481ValfsTer18
XM_024448517.1:c.1436_1439dup	XP_024304285.1:p.Glu481ValfsTer18
XM_024448518.1:c.1436_1439dup	XP_024304286.1:p.Glu481ValfsTer18
NM_020247.5:c.1436_1439dup MANE Select	NP_064632.2:p.Glu481ValfsTer18