Canonical Allele Identifier: CA2580617946

Gene: COQ8A

Linked Data

• ClinVar Variation Id: 2503437
• ClinVar RCV Id: RCV003326710

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983559dup , CM000663.2:g.226983559dup	GRCh38
NC_000001.10:g.227171260dup , CM000663.1:g.227171260dup	GRCh37
NC_000001.9:g.225237883dup	NCBI36
NG_012825.1:g.48323dup
NG_012825.2:g.91024dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000366777.4:c.1088dup MANE Select	ENSP00000355739.3:p.Val364ArgfsTer8
ENST00000366779.6:c.*5815dup	ENSP00000355741.2:n.*5815dup
ENST00000676884.1:c.*5937dup	ENSP00000503200.1:n.*5937dup
ENST00000366777.3:c.1088dup	ENSP00000355739.3:p.Val364ArgfsTer8
ENST00000366778.5:c.932dup	ENSP00000355740.1:p.Val312ArgfsTer8
ENST00000366779.5:c.1088dup	ENSP00000355741.1:p.Val364ArgfsTer8
ENST00000478406.5:n.1584dup
ENST00000479852.1:n.36dup
ENST00000485462.5:n.478dup
NM_020247.4:c.1088dup	NP_064632.2:p.Val364ArgfsTer8
XM_005273201.1:c.1088dup	XP_005273258.1:p.Val364ArgfsTer8
XM_011544238.1:c.1088dup	XP_011542540.1:p.Val364ArgfsTer8
XM_011544239.1:c.1088dup	XP_011542541.1:p.Val364ArgfsTer8
XM_011544240.1:c.1088dup	XP_011542542.1:p.Val364ArgfsTer8
XM_011544241.1:c.1088dup	XP_011542543.1:p.Val364ArgfsTer8
XM_011544239.2:c.1088dup	XP_011542541.1:p.Val364ArgfsTer8
XM_011544241.2:c.1088dup	XP_011542543.1:p.Val364ArgfsTer8
XM_017001852.1:c.1088dup	XP_016857341.1:p.Val364ArgfsTer8
XM_024448517.1:c.1088dup	XP_024304285.1:p.Val364ArgfsTer8
XM_024448518.1:c.1088dup	XP_024304286.1:p.Val364ArgfsTer8
NM_020247.5:c.1088dup MANE Select	NP_064632.2:p.Val364ArgfsTer8