Canonical Allele Identifier: CA2825000923

Gene: COQ8A

Linked Data

• ClinVar Variation Id: 3068276
• ClinVar RCV Id: RCV003991956

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226982968del , CM000663.2:g.226982968del	GRCh38
NC_000001.10:g.227170669del , CM000663.1:g.227170669del	GRCh37
NC_000001.9:g.225237292del	NCBI36
NG_012825.1:g.47732del
NG_012825.2:g.90433del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1014del MANE Select	ENSP00000355739.3:p.Ala339HisfsTer11
ENST00000366779.6:c.*5741del	ENSP00000355741.2:n.*5741del
ENST00000676884.1:c.*5863del	ENSP00000503200.1:n.*5863del
ENST00000366777.3:c.1014del	ENSP00000355739.3:p.Ala339HisfsTer11
ENST00000366778.5:c.858del	ENSP00000355740.1:p.Ala287HisfsTer11
ENST00000366779.5:c.1014del	ENSP00000355741.1:p.Ala339HisfsTer11
ENST00000478406.5:n.993del
ENST00000485462.5:n.404del
NM_020247.4:c.1014del	NP_064632.2:p.Ala339HisfsTer11
XM_005273201.1:c.1014del	XP_005273258.1:p.Ala339HisfsTer11
XM_011544238.1:c.1014del	XP_011542540.1:p.Ala339HisfsTer11
XM_011544239.1:c.1014del	XP_011542541.1:p.Ala339HisfsTer11
XM_011544240.1:c.1014del	XP_011542542.1:p.Ala339HisfsTer11
XM_011544241.1:c.1014del	XP_011542543.1:p.Ala339HisfsTer11
XM_011544239.2:c.1014del	XP_011542541.1:p.Ala339HisfsTer11
XM_011544241.2:c.1014del	XP_011542543.1:p.Ala339HisfsTer11
XM_017001852.1:c.1014del	XP_016857341.1:p.Ala339HisfsTer11
XM_024448517.1:c.1014del	XP_024304285.1:p.Ala339HisfsTer11
XM_024448518.1:c.1014del	XP_024304286.1:p.Ala339HisfsTer11
NM_020247.5:c.1014del MANE Select	NP_064632.2:p.Ala339HisfsTer11