Canonical Allele Identifier: CA116406
Gene: COQ8A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 3643
ClinVar RCV Id: RCV000003828
dbSNP Id: rs119468008

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226984910A>G , CM000663.2:g.226984910A>G GRCh38
NC_000001.9:g.225239234A>G NCBI36
NC_000001.10:g.227172611A>G , CM000663.1:g.227172611A>G GRCh37
NG_012825.1:g.49674A>G
NG_012825.2:g.92375A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000366777.3:c.1541A>G ENSP00000355739.3:p.Tyr514Cys
ENST00000366778.5:c.1385A>G ENSP00000355740.1:p.Tyr462Cys
ENST00000366779.5:c.1541A>G ENSP00000355741.1:p.Tyr514Cys
ENST00000478406.5:n.2403A>G
ENST00000479852.1:n.728A>G
ENST00000485462.5:n.931A>G
NM_020247.4:c.1541A>G VV NP_064632.2:p.Tyr514Cys
XM_005273201.1:c.1541A>G XP_005273258.1:p.Tyr514Cys
XM_011544238.1:c.1541A>G XP_011542540.1:p.Tyr514Cys
XM_011544239.1:c.1541A>G XP_011542541.1:p.Tyr514Cys
XM_011544240.1:c.1541A>G XP_011542542.1:p.Tyr514Cys
XM_011544241.1:c.1541A>G XP_011542543.1:p.Tyr514Cys
XM_011544239.2:c.1541A>G
XM_011544241.2:c.1541A>G
XM_017001852.1:c.1541A>G XP_016857341.1:p.Tyr514Cys
XM_024448517.1:c.1541A>G XP_024304285.1:p.Tyr514Cys
XM_024448518.1:c.1541A>G XP_024304286.1:p.Tyr514Cys