Canonical Allele Identifier: CA2650795668

Gene: COQ8A

Linked Data

• gnomAD v4: 1-226984644-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226984645dup , CM000663.2:g.226984645dup	GRCh38
NC_000001.10:g.227172346dup , CM000663.1:g.227172346dup	GRCh37
NC_000001.9:g.225238969dup	NCBI36
NG_012825.1:g.49409dup
NG_012825.2:g.92110dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1496dup MANE Select	ENSP00000355739.3:p.Gln500AlafsTer16
ENST00000366779.6:c.*6223dup	ENSP00000355741.2:n.*6223dup
ENST00000366777.3:c.1496dup	ENSP00000355739.3:p.Gln500AlafsTer16
ENST00000366778.5:c.1340dup	ENSP00000355740.1:p.Gln448AlafsTer16
ENST00000366779.5:c.1496dup	ENSP00000355741.1:p.Gln500AlafsTer16
ENST00000478406.5:n.2358dup
ENST00000479852.1:n.683dup
ENST00000485462.5:n.886dup
NM_020247.4:c.1496dup	NP_064632.2:p.Gln500AlafsTer16
XM_005273201.1:c.1496dup	XP_005273258.1:p.Gln500AlafsTer16
XM_011544238.1:c.1496dup	XP_011542540.1:p.Gln500AlafsTer16
XM_011544239.1:c.1496dup	XP_011542541.1:p.Gln500AlafsTer16
XM_011544240.1:c.1496dup	XP_011542542.1:p.Gln500AlafsTer16
XM_011544241.1:c.1496dup	XP_011542543.1:p.Gln500AlafsTer16
XM_011544239.2:c.1496dup	XP_011542541.1:p.Gln500AlafsTer16
XM_011544241.2:c.1496dup	XP_011542543.1:p.Gln500AlafsTer16
XM_017001852.1:c.1496dup	XP_016857341.1:p.Gln500AlafsTer16
XM_024448517.1:c.1496dup	XP_024304285.1:p.Gln500AlafsTer16
XM_024448518.1:c.1496dup	XP_024304286.1:p.Gln500AlafsTer16
NM_020247.5:c.1496dup MANE Select	NP_064632.2:p.Gln500AlafsTer16