Canonical Allele Identifier: CA1140622498
Gene: COQ8A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226982976T= , CM000663.2:g.226982976T= GRCh38
NC_000001.10:g.227170677T= , CM000663.1:g.227170677T= GRCh37
NC_000001.9:g.225237300T= NCBI36
NG_012825.1:g.47740T=
NG_012825.2:g.90441T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366777.4:c.1022T= MANE Select ENSP00000355739.3:p.Ile341=
ENST00000366779.6:c.*5749T= ENSP00000355741.2:n.*5749T=
ENST00000676884.1:c.*5871T= ENSP00000503200.1:n.*5871T=
ENST00000366777.3:c.1022T= ENSP00000355739.3:p.Ile341=
ENST00000366778.5:c.866T= ENSP00000355740.1:p.Ile289=
ENST00000366779.5:c.1022T= ENSP00000355741.1:p.Ile341=
ENST00000478406.5:n.1001T=
ENST00000485462.5:n.412T=
NM_020247.4:c.1022T= NP_064632.2:p.Ile341=
XM_005273201.1:c.1022T= XP_005273258.1:p.Ile341=
XM_011544238.1:c.1022T= XP_011542540.1:p.Ile341=
XM_011544239.1:c.1022T= XP_011542541.1:p.Ile341=
XM_011544240.1:c.1022T= XP_011542542.1:p.Ile341=
XM_011544241.1:c.1022T= XP_011542543.1:p.Ile341=
XM_011544239.2:c.1022T= XP_011542541.1:p.Ile341=
XM_011544241.2:c.1022T= XP_011542543.1:p.Ile341=
XM_017001852.1:c.1022T= XP_016857341.1:p.Ile341=
XM_024448517.1:c.1022T= XP_024304285.1:p.Ile341=
XM_024448518.1:c.1022T= XP_024304286.1:p.Ile341=
NM_020247.5:c.1022T= MANE Select NP_064632.2:p.Ile341=