Canonical Allele Identifier: CA1425169
Gene: COQ8A HGNC NCBI

Linked Data

ClinVar Variation Id: 392924
dbSNP Id: rs781518112

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226982126T>C , CM000663.2:g.226982126T>C GRCh38
NC_000001.10:g.227169827T>C , CM000663.1:g.227169827T>C GRCh37
NC_000001.9:g.225236450T>C NCBI36
NG_012825.1:g.46890T>C
NG_012825.2:g.89591T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366777.4:c.830T>C MANE Select ENSP00000355739.3:p.Leu277Pro
ENST00000366779.6:c.*5557T>C ENSP00000355741.2:n.*5557T>C
ENST00000676884.1:c.*5679T>C ENSP00000503200.1:n.*5679T>C
ENST00000366777.3:c.830T>C ENSP00000355739.3:p.Leu277Pro
ENST00000366778.5:c.674T>C ENSP00000355740.1:p.Leu225Pro
ENST00000366779.5:c.830T>C ENSP00000355741.1:p.Leu277Pro
ENST00000478406.5:n.281T>C
ENST00000485462.5:n.220T>C
NM_020247.4:c.830T>C NP_064632.2:p.Leu277Pro
XM_005273201.1:c.830T>C XP_005273258.1:p.Leu277Pro
XM_011544238.1:c.830T>C XP_011542540.1:p.Leu277Pro
XM_011544239.1:c.830T>C XP_011542541.1:p.Leu277Pro
XM_011544240.1:c.830T>C XP_011542542.1:p.Leu277Pro
XM_011544241.1:c.830T>C XP_011542543.1:p.Leu277Pro
XM_011544239.2:c.830T>C XP_011542541.1:p.Leu277Pro
XM_011544241.2:c.830T>C XP_011542543.1:p.Leu277Pro
XM_017001852.1:c.830T>C XP_016857341.1:p.Leu277Pro
XM_024448517.1:c.830T>C XP_024304285.1:p.Leu277Pro
XM_024448518.1:c.830T>C XP_024304286.1:p.Leu277Pro
NM_020247.5:c.830T>C MANE Select NP_064632.2:p.Leu277Pro