Canonical Allele Identifier: CA358149
Gene: COQ8A HGNC NCBI

Linked Data

ClinVar Variation Id: 225002
dbSNP Id: rs755933881

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226982969G>A , CM000663.2:g.226982969G>A GRCh38
NC_000001.10:g.227170670G>A , CM000663.1:g.227170670G>A GRCh37
NC_000001.9:g.225237293G>A NCBI36
NG_012825.1:g.47733G>A
NG_012825.2:g.90434G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366777.4:c.1015G>A MANE Select ENSP00000355739.3:p.Ala339Thr
ENST00000366779.6:c.*5742G>A ENSP00000355741.2:n.*5742G>A
ENST00000676884.1:c.*5864G>A ENSP00000503200.1:n.*5864G>A
ENST00000366777.3:c.1015G>A ENSP00000355739.3:p.Ala339Thr
ENST00000366778.5:c.859G>A ENSP00000355740.1:p.Ala287Thr
ENST00000366779.5:c.1015G>A ENSP00000355741.1:p.Ala339Thr
ENST00000478406.5:n.994G>A
ENST00000485462.5:n.405G>A
NM_020247.4:c.1015G>A NP_064632.2:p.Ala339Thr
XM_005273201.1:c.1015G>A XP_005273258.1:p.Ala339Thr
XM_011544238.1:c.1015G>A XP_011542540.1:p.Ala339Thr
XM_011544239.1:c.1015G>A XP_011542541.1:p.Ala339Thr
XM_011544240.1:c.1015G>A XP_011542542.1:p.Ala339Thr
XM_011544241.1:c.1015G>A XP_011542543.1:p.Ala339Thr
XM_011544239.2:c.1015G>A XP_011542541.1:p.Ala339Thr
XM_011544241.2:c.1015G>A XP_011542543.1:p.Ala339Thr
XM_017001852.1:c.1015G>A XP_016857341.1:p.Ala339Thr
XM_024448517.1:c.1015G>A XP_024304285.1:p.Ala339Thr
XM_024448518.1:c.1015G>A XP_024304286.1:p.Ala339Thr
NM_020247.5:c.1015G>A MANE Select NP_064632.2:p.Ala339Thr