Canonical Allele Identifier: CA645293791

Gene: COQ8A

Linked Data

• ClinVar Variation Id: 225294
• ClinVar RCV Id: RCV000490281
• dbSNP Id: rs1085307053
• MyVariant Identifiers: chr1:g.227170662del (hg19) ; chr1:g.226982961del (hg38)
• PubMed: PMID:18319074

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226982961del , CM000663.2:g.226982961del	GRCh38
NC_000001.10:g.227170662del , CM000663.1:g.227170662del	GRCh37
NC_000001.9:g.225237285del	NCBI36
NG_012825.1:g.47725del
NG_012825.2:g.90426del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1007del MANE Select	ENSP00000355739.3:p.Phe336SerfsTer14
ENST00000366779.6:c.*5734del	ENSP00000355741.2:n.*5734del
ENST00000676884.1:c.*5856del	ENSP00000503200.1:n.*5856del
ENST00000366777.3:c.1007del	ENSP00000355739.3:p.Phe336SerfsTer14
ENST00000366778.5:c.851del	ENSP00000355740.1:p.Phe284SerfsTer14
ENST00000366779.5:c.1007del	ENSP00000355741.1:p.Phe336SerfsTer14
ENST00000478406.5:n.986del
ENST00000485462.5:n.397del
NM_020247.4:c.1007del	NP_064632.2:p.Phe336SerfsTer14
XM_005273201.1:c.1007del	XP_005273258.1:p.Phe336SerfsTer14
XM_011544238.1:c.1007del	XP_011542540.1:p.Phe336SerfsTer14
XM_011544239.1:c.1007del	XP_011542541.1:p.Phe336SerfsTer14
XM_011544240.1:c.1007del	XP_011542542.1:p.Phe336SerfsTer14
XM_011544241.1:c.1007del	XP_011542543.1:p.Phe336SerfsTer14
XM_011544239.2:c.1007del	XP_011542541.1:p.Phe336SerfsTer14
XM_011544241.2:c.1007del	XP_011542543.1:p.Phe336SerfsTer14
XM_017001852.1:c.1007del	XP_016857341.1:p.Phe336SerfsTer14
XM_024448517.1:c.1007del	XP_024304285.1:p.Phe336SerfsTer14
XM_024448518.1:c.1007del	XP_024304286.1:p.Phe336SerfsTer14
NM_020247.5:c.1007del MANE Select	NP_064632.2:p.Phe336SerfsTer14