Canonical Allele Identifier: CA38645380

Gene: COQ8A

Linked Data

• ClinVar Variation Id: 2684180
• ClinVar RCV Id: RCV003482676
• dbSNP Id: rs758871135
• gnomAD v2: 1-227170663-C-G
• gnomAD v4: 1-226982962-C-G
• MyVariant Identifiers: chr1:g.227170663C>G (hg19) ; chr1:g.226982962C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226982962C>G , CM000663.2:g.226982962C>G	GRCh38
NC_000001.10:g.227170663C>G , CM000663.1:g.227170663C>G	GRCh37
NC_000001.9:g.225237286C>G	NCBI36
NG_012825.1:g.47726C>G
NG_012825.2:g.90427C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1008C>G MANE Select	ENSP00000355739.3:p.Phe336Leu
ENST00000366779.6:c.*5735C>G	ENSP00000355741.2:n.*5735C>G
ENST00000676884.1:c.*5857C>G	ENSP00000503200.1:n.*5857C>G
ENST00000366777.3:c.1008C>G	ENSP00000355739.3:p.Phe336Leu
ENST00000366778.5:c.852C>G	ENSP00000355740.1:p.Phe284Leu
ENST00000366779.5:c.1008C>G	ENSP00000355741.1:p.Phe336Leu
ENST00000478406.5:n.987C>G
ENST00000485462.5:n.398C>G
NM_020247.4:c.1008C>G	NP_064632.2:p.Phe336Leu
XM_005273201.1:c.1008C>G	XP_005273258.1:p.Phe336Leu
XM_011544238.1:c.1008C>G	XP_011542540.1:p.Phe336Leu
XM_011544239.1:c.1008C>G	XP_011542541.1:p.Phe336Leu
XM_011544240.1:c.1008C>G	XP_011542542.1:p.Phe336Leu
XM_011544241.1:c.1008C>G	XP_011542543.1:p.Phe336Leu
XM_011544239.2:c.1008C>G	XP_011542541.1:p.Phe336Leu
XM_011544241.2:c.1008C>G	XP_011542543.1:p.Phe336Leu
XM_017001852.1:c.1008C>G	XP_016857341.1:p.Phe336Leu
XM_024448517.1:c.1008C>G	XP_024304285.1:p.Phe336Leu
XM_024448518.1:c.1008C>G	XP_024304286.1:p.Phe336Leu
NM_020247.5:c.1008C>G MANE Select	NP_064632.2:p.Phe336Leu