Canonical Allele Identifier: CA732365169

Gene: COQ8A

Linked Data

• ClinVar Variation Id: 2631386
• ClinVar RCV Id: RCV003414461
• dbSNP Id: rs1473126291
• gnomAD v3: 1-226983553-AC-A
• gnomAD v4: 1-226983553-AC-A
• MyVariant Identifiers: chr1:g.227171255del (hg19) ; chr1:g.226983554del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983556del , CM000663.2:g.226983556del	GRCh38
NC_000001.10:g.227171257del , CM000663.1:g.227171257del	GRCh37
NC_000001.9:g.225237880del	NCBI36
NG_012825.1:g.48320del
NG_012825.2:g.91021del

Transcript Alleles

HGVS	Amino-acid change
ENST00000366777.4:c.1085del MANE Select	ENSP00000355739.3:p.Pro362LeufsTer18
ENST00000366779.6:c.*5812del	ENSP00000355741.2:n.*5812del
ENST00000676884.1:c.*5934del	ENSP00000503200.1:n.*5934del
ENST00000366777.3:c.1085del	ENSP00000355739.3:p.Pro362LeufsTer18
ENST00000366778.5:c.929del	ENSP00000355740.1:p.Pro310LeufsTer18
ENST00000366779.5:c.1085del	ENSP00000355741.1:p.Pro362LeufsTer18
ENST00000478406.5:n.1581del
ENST00000479852.1:n.33del
ENST00000485462.5:n.475del
NM_020247.4:c.1085del	NP_064632.2:p.Pro362LeufsTer18
XM_005273201.1:c.1085del	XP_005273258.1:p.Pro362LeufsTer18
XM_011544238.1:c.1085del	XP_011542540.1:p.Pro362LeufsTer18
XM_011544239.1:c.1085del	XP_011542541.1:p.Pro362LeufsTer18
XM_011544240.1:c.1085del	XP_011542542.1:p.Pro362LeufsTer18
XM_011544241.1:c.1085del	XP_011542543.1:p.Pro362LeufsTer18
XM_011544239.2:c.1085del	XP_011542541.1:p.Pro362LeufsTer18
XM_011544241.2:c.1085del	XP_011542543.1:p.Pro362LeufsTer18
XM_017001852.1:c.1085del	XP_016857341.1:p.Pro362LeufsTer18
XM_024448517.1:c.1085del	XP_024304285.1:p.Pro362LeufsTer18
XM_024448518.1:c.1085del	XP_024304286.1:p.Pro362LeufsTer18
NM_020247.5:c.1085del MANE Select	NP_064632.2:p.Pro362LeufsTer18