Canonical Allele Identifier: CA1425241

Gene: COQ8A

Linked Data

• ClinVar Variation Id: 2578598
• ClinVar RCV Id: RCV003326774
• dbSNP Id: rs774353934
• ExAC: 1:227170598 ACT / A
• gnomAD v2: 1-227170598-ACT-A
• gnomAD v4: 1-226982897-ACT-A
• MyVariant Identifiers: chr1:g.227170599_227170600del (hg19) ; chr1:g.226982898_226982899del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226982901_226982902del , CM000663.2:g.226982901_226982902del	GRCh38
NC_000001.10:g.227170602_227170603del , CM000663.1:g.227170602_227170603del	GRCh37
NC_000001.9:g.225237225_225237226del	NCBI36
NG_012825.1:g.47665_47666del
NG_012825.2:g.90366_90367del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.947_948del MANE Select	ENSP00000355739.3:p.Leu316GlnfsTer?
ENST00000366779.6:c.*5674_*5675del	ENSP00000355741.2:n.*5674_*5675del
ENST00000676884.1:c.*5796_*5797del	ENSP00000503200.1:n.*5796_*5797del
ENST00000366777.3:c.947_948del	ENSP00000355739.3:p.Leu316GlnfsTer?
ENST00000366778.5:c.791_792del	ENSP00000355740.1:p.Leu264GlnfsTer?
ENST00000366779.5:c.947_948del	ENSP00000355741.1:p.Leu316GlnfsTer?
ENST00000478406.5:n.926_927del
ENST00000485462.5:n.337_338del
NM_020247.4:c.947_948del	NP_064632.2:p.Leu316GlnfsTer?
XM_005273201.1:c.947_948del	XP_005273258.1:p.Leu316GlnfsTer?
XM_011544238.1:c.947_948del	XP_011542540.1:p.Leu316GlnfsTer?
XM_011544239.1:c.947_948del	XP_011542541.1:p.Leu316GlnfsTer?
XM_011544240.1:c.947_948del	XP_011542542.1:p.Leu316GlnfsTer?
XM_011544241.1:c.947_948del	XP_011542543.1:p.Leu316GlnfsTer?
XM_011544239.2:c.947_948del	XP_011542541.1:p.Leu316GlnfsTer?
XM_011544241.2:c.947_948del	XP_011542543.1:p.Leu316GlnfsTer?
XM_017001852.1:c.947_948del	XP_016857341.1:p.Leu316GlnfsTer?
XM_024448517.1:c.947_948del	XP_024304285.1:p.Leu316GlnfsTer?
XM_024448518.1:c.947_948del	XP_024304286.1:p.Leu316GlnfsTer?
NM_020247.5:c.947_948del MANE Select	NP_064632.2:p.Leu316GlnfsTer?