Canonical Allele Identifier: CA38646208

Gene: COQ8A

Linked Data

• ClinVar Variation Id: 3023813
• ClinVar RCV Id: RCV003880908
• dbSNP Id: rs1024405380
• gnomAD v2: 1-227171341-G-A
• MyVariant Identifiers: chr1:g.227171341G>A (hg19) ; chr1:g.226983640G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983640G>A , CM000663.2:g.226983640G>A	GRCh38
NC_000001.10:g.227171341G>A , CM000663.1:g.227171341G>A	GRCh37
NC_000001.9:g.225237964G>A	NCBI36
NG_012825.1:g.48404G>A
NG_012825.2:g.91105G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1162+7G>A MANE Select	ENSP00000355739.3:n.1162+7G>A
ENST00000366779.6:c.*5889+7G>A	ENSP00000355741.2:n.*5889+7G>A
ENST00000676884.1:c.*6011+7G>A	ENSP00000503200.1:n.*6011+7G>A
ENST00000366777.3:c.1162+7G>A	ENSP00000355739.3:n.1162+7G>A
ENST00000366778.5:c.1006+7G>A	ENSP00000355740.1:n.1006+7G>A
ENST00000366779.5:c.1162+7G>A	ENSP00000355741.1:n.1162+7G>A
ENST00000478406.5:n.1665G>A
ENST00000479852.1:n.110+7G>A
ENST00000485462.5:n.552+7G>A
NM_020247.4:c.1162+7G>A	NP_064632.2:n.1162+7G>A
XM_005273201.1:c.1162+7G>A	XP_005273258.1:n.1162+7G>A
XM_011544238.1:c.1162+7G>A	XP_011542540.1:n.1162+7G>A
XM_011544239.1:c.1162+7G>A	XP_011542541.1:n.1162+7G>A
XM_011544240.1:c.1162+7G>A	XP_011542542.1:n.1162+7G>A
XM_011544241.1:c.1162+7G>A	XP_011542543.1:n.1162+7G>A
XM_011544239.2:c.1162+7G>A	XP_011542541.1:n.1162+7G>A
XM_011544241.2:c.1162+7G>A	XP_011542543.1:n.1162+7G>A
XM_017001852.1:c.1162+7G>A	XP_016857341.1:n.1162+7G>A
XM_024448517.1:c.1162+7G>A	XP_024304285.1:n.1162+7G>A
XM_024448518.1:c.1162+7G>A	XP_024304286.1:n.1162+7G>A
NM_020247.5:c.1162+7G>A MANE Select	NP_064632.2:n.1162+7G>A