Canonical Allele Identifier: CA1425531

Gene: COQ8A

Linked Data

• ClinVar Variation Id: 1022194
• ClinVar RCV Id: RCV001322072
• dbSNP Id: rs200115323
• ExAC: 1:227172605 G / A
• gnomAD v2: 1-227172605-G-A
• gnomAD v3: 1-226984904-G-A
• gnomAD v4: 1-226984904-G-A
• MyVariant Identifiers: chr1:g.227172605G>A (hg19) ; chr1:g.226984904G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226984904G>A , CM000663.2:g.226984904G>A	GRCh38
NC_000001.10:g.227172605G>A , CM000663.1:g.227172605G>A	GRCh37
NC_000001.9:g.225239228G>A	NCBI36
NG_012825.1:g.49668G>A
NG_012825.2:g.92369G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1535G>A MANE Select	ENSP00000355739.3:p.Arg512Gln
ENST00000366779.6:c.*6262G>A	ENSP00000355741.2:n.*6262G>A
ENST00000366777.3:c.1535G>A	ENSP00000355739.3:p.Arg512Gln
ENST00000366778.5:c.1379G>A	ENSP00000355740.1:p.Arg460Gln
ENST00000366779.5:c.1535G>A	ENSP00000355741.1:p.Arg512Gln
ENST00000478406.5:n.2397G>A
ENST00000479852.1:n.722G>A
ENST00000485462.5:n.925G>A
NM_020247.4:c.1535G>A	NP_064632.2:p.Arg512Gln
XM_005273201.1:c.1535G>A	XP_005273258.1:p.Arg512Gln
XM_011544238.1:c.1535G>A	XP_011542540.1:p.Arg512Gln
XM_011544239.1:c.1535G>A	XP_011542541.1:p.Arg512Gln
XM_011544240.1:c.1535G>A	XP_011542542.1:p.Arg512Gln
XM_011544241.1:c.1535G>A	XP_011542543.1:p.Arg512Gln
XM_011544239.2:c.1535G>A	XP_011542541.1:p.Arg512Gln
XM_011544241.2:c.1535G>A	XP_011542543.1:p.Arg512Gln
XM_017001852.1:c.1535G>A	XP_016857341.1:p.Arg512Gln
XM_024448517.1:c.1535G>A	XP_024304285.1:p.Arg512Gln
XM_024448518.1:c.1535G>A	XP_024304286.1:p.Arg512Gln
NM_020247.5:c.1535G>A MANE Select	NP_064632.2:p.Arg512Gln