Canonical Allele Identifier: CA1425500

Gene: COQ8A

Linked Data

• ClinVar Variation Id: 1898863
• ClinVar RCV Id: RCV002574127
• dbSNP Id: rs760655614
• ExAC: 1:227172328 A / G
• gnomAD v2: 1-227172328-A-G
• gnomAD v3: 1-226984627-A-G
• gnomAD v4: 1-226984627-A-G
• COSMIC: COSM134006
• MyVariant Identifiers: chr1:g.227172328A>G (hg19) ; chr1:g.227172328_227172331delinsGCTT (hg19) ; chr1:g.226984627A>G (hg38) ; chr1:g.226984627_226984630delinsGCTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226984627A>G , CM000663.2:g.226984627A>G	GRCh38
NC_000001.10:g.227172328A>G , CM000663.1:g.227172328A>G	GRCh37
NC_000001.9:g.225238951A>G	NCBI36
NG_012825.1:g.49391A>G
NG_012825.2:g.92092A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1478A>G MANE Select	ENSP00000355739.3:p.Asn493Ser
ENST00000366779.6:c.*6205A>G	ENSP00000355741.2:n.*6205A>G
ENST00000366777.3:c.1478A>G	ENSP00000355739.3:p.Asn493Ser
ENST00000366778.5:c.1322A>G	ENSP00000355740.1:p.Asn441Ser
ENST00000366779.5:c.1478A>G	ENSP00000355741.1:p.Asn493Ser
ENST00000478406.5:n.2340A>G
ENST00000479852.1:n.665A>G
ENST00000485462.5:n.868A>G
NM_020247.4:c.1478A>G	NP_064632.2:p.Asn493Ser
XM_005273201.1:c.1478A>G	XP_005273258.1:p.Asn493Ser
XM_011544238.1:c.1478A>G	XP_011542540.1:p.Asn493Ser
XM_011544239.1:c.1478A>G	XP_011542541.1:p.Asn493Ser
XM_011544240.1:c.1478A>G	XP_011542542.1:p.Asn493Ser
XM_011544241.1:c.1478A>G	XP_011542543.1:p.Asn493Ser
XM_011544239.2:c.1478A>G	XP_011542541.1:p.Asn493Ser
XM_011544241.2:c.1478A>G	XP_011542543.1:p.Asn493Ser
XM_017001852.1:c.1478A>G	XP_016857341.1:p.Asn493Ser
XM_024448517.1:c.1478A>G	XP_024304285.1:p.Asn493Ser
XM_024448518.1:c.1478A>G	XP_024304286.1:p.Asn493Ser
NM_020247.5:c.1478A>G MANE Select	NP_064632.2:p.Asn493Ser