Canonical Allele Identifier: CA345052171

Gene: COQ8A

Linked Data

• ClinVar Variation Id: 1806595
• ClinVar RCV Id: RCV002474024
• gnomAD v4: 1-226982128-G-C
• MyVariant Identifiers: chr1:g.227169829G>C (hg19) ; chr1:g.226982128G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226982128G>C , CM000663.2:g.226982128G>C	GRCh38
NC_000001.10:g.227169829G>C , CM000663.1:g.227169829G>C	GRCh37
NC_000001.9:g.225236452G>C	NCBI36
NG_012825.1:g.46892G>C
NG_012825.2:g.89593G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.832G>C MANE Select	ENSP00000355739.3:p.Gly278Arg
ENST00000366779.6:c.*5559G>C	ENSP00000355741.2:n.*5559G>C
ENST00000676884.1:c.*5681G>C	ENSP00000503200.1:n.*5681G>C
ENST00000366777.3:c.832G>C	ENSP00000355739.3:p.Gly278Arg
ENST00000366778.5:c.676G>C	ENSP00000355740.1:p.Gly226Arg
ENST00000366779.5:c.832G>C	ENSP00000355741.1:p.Gly278Arg
ENST00000478406.5:n.283G>C
ENST00000485462.5:n.222G>C
NM_020247.4:c.832G>C	NP_064632.2:p.Gly278Arg
XM_005273201.1:c.832G>C	XP_005273258.1:p.Gly278Arg
XM_011544238.1:c.832G>C	XP_011542540.1:p.Gly278Arg
XM_011544239.1:c.832G>C	XP_011542541.1:p.Gly278Arg
XM_011544240.1:c.832G>C	XP_011542542.1:p.Gly278Arg
XM_011544241.1:c.832G>C	XP_011542543.1:p.Gly278Arg
XM_011544239.2:c.832G>C	XP_011542541.1:p.Gly278Arg
XM_011544241.2:c.832G>C	XP_011542543.1:p.Gly278Arg
XM_017001852.1:c.832G>C	XP_016857341.1:p.Gly278Arg
XM_024448517.1:c.832G>C	XP_024304285.1:p.Gly278Arg
XM_024448518.1:c.832G>C	XP_024304286.1:p.Gly278Arg
NM_020247.5:c.832G>C MANE Select	NP_064632.2:p.Gly278Arg