Canonical Allele Identifier: CA1425372

Gene: COQ8A

Linked Data

• ClinVar Variation Id: 434089
• ClinVar RCV Id: RCV000500170 ; RCV000517622 ; RCV001851397
• dbSNP Id: rs763311061
• ExAC: 1:227171528 G / A
• gnomAD v2: 1-227171528-G-A
• gnomAD v3: 1-226983827-G-A
• gnomAD v4: 1-226983827-G-A
• MyVariant Identifiers: chr1:g.227171528G>A (hg19) ; chr1:g.226983827G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983827G>A , CM000663.2:g.226983827G>A	GRCh38
NC_000001.10:g.227171528G>A , CM000663.1:g.227171528G>A	GRCh37
NC_000001.9:g.225238151G>A	NCBI36
NG_012825.1:g.48591G>A
NG_012825.2:g.91292G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1229G>A MANE Select	ENSP00000355739.3:p.Arg410Gln
ENST00000366779.6:c.*5956G>A	ENSP00000355741.2:n.*5956G>A
ENST00000676884.1:c.*6078G>A	ENSP00000503200.1:n.*6078G>A
ENST00000366777.3:c.1229G>A	ENSP00000355739.3:p.Arg410Gln
ENST00000366778.5:c.1073G>A	ENSP00000355740.1:p.Arg358Gln
ENST00000366779.5:c.1229G>A	ENSP00000355741.1:p.Arg410Gln
ENST00000478406.5:n.1852G>A
ENST00000479852.1:n.177G>A
ENST00000485462.5:n.619G>A
NM_020247.4:c.1229G>A	NP_064632.2:p.Arg410Gln
XM_005273201.1:c.1229G>A	XP_005273258.1:p.Arg410Gln
XM_011544238.1:c.1229G>A	XP_011542540.1:p.Arg410Gln
XM_011544239.1:c.1229G>A	XP_011542541.1:p.Arg410Gln
XM_011544240.1:c.1229G>A	XP_011542542.1:p.Arg410Gln
XM_011544241.1:c.1229G>A	XP_011542543.1:p.Arg410Gln
XM_011544239.2:c.1229G>A	XP_011542541.1:p.Arg410Gln
XM_011544241.2:c.1229G>A	XP_011542543.1:p.Arg410Gln
XM_017001852.1:c.1229G>A	XP_016857341.1:p.Arg410Gln
XM_024448517.1:c.1229G>A	XP_024304285.1:p.Arg410Gln
XM_024448518.1:c.1229G>A	XP_024304286.1:p.Arg410Gln
NM_020247.5:c.1229G>A MANE Select	NP_064632.2:p.Arg410Gln