Canonical Allele Identifier: CA345053104
Gene: COQ8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1299389
ClinVar RCV Id: RCV001728079
dbSNP Id: rs536852535

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226983008G>T , CM000663.2:g.226983008G>T GRCh38
NC_000001.10:g.227170709G>T , CM000663.1:g.227170709G>T GRCh37
NC_000001.9:g.225237332G>T NCBI36
NG_012825.1:g.47772G>T
NG_012825.2:g.90473G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366777.4:c.1054G>T MANE Select ENSP00000355739.3:p.Gly352Cys
ENST00000366779.6:c.*5781G>T ENSP00000355741.2:n.*5781G>T
ENST00000676884.1:c.*5903G>T ENSP00000503200.1:n.*5903G>T
ENST00000366777.3:c.1054G>T ENSP00000355739.3:p.Gly352Cys
ENST00000366778.5:c.898G>T ENSP00000355740.1:p.Gly300Cys
ENST00000366779.5:c.1054G>T ENSP00000355741.1:p.Gly352Cys
ENST00000478406.5:n.1033G>T
ENST00000479852.1:n.2G>T
ENST00000485462.5:n.444G>T
NM_020247.4:c.1054G>T NP_064632.2:p.Gly352Cys
XM_005273201.1:c.1054G>T XP_005273258.1:p.Gly352Cys
XM_011544238.1:c.1054G>T XP_011542540.1:p.Gly352Cys
XM_011544239.1:c.1054G>T XP_011542541.1:p.Gly352Cys
XM_011544240.1:c.1054G>T XP_011542542.1:p.Gly352Cys
XM_011544241.1:c.1054G>T XP_011542543.1:p.Gly352Cys
XM_011544239.2:c.1054G>T XP_011542541.1:p.Gly352Cys
XM_011544241.2:c.1054G>T XP_011542543.1:p.Gly352Cys
XM_017001852.1:c.1054G>T XP_016857341.1:p.Gly352Cys
XM_024448517.1:c.1054G>T XP_024304285.1:p.Gly352Cys
XM_024448518.1:c.1054G>T XP_024304286.1:p.Gly352Cys
NM_020247.5:c.1054G>T MANE Select NP_064632.2:p.Gly352Cys