Canonical Allele Identifier: CA116409
Gene: COQ8A HGNC NCBI

Linked Data

ClinVar Variation Id: 3645
dbSNP Id: rs41303129

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226982947C>T , CM000663.2:g.226982947C>T GRCh38
NC_000001.10:g.227170648C>T , CM000663.1:g.227170648C>T GRCh37
NC_000001.9:g.225237271C>T NCBI36
NG_012825.1:g.47711C>T
NG_012825.2:g.90412C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000366777.4:c.993C>T MANE Select ENSP00000355739.3:p.Phe331=
ENST00000366779.6:c.*5720C>T ENSP00000355741.2:n.*5720C>T
ENST00000676884.1:c.*5842C>T ENSP00000503200.1:n.*5842C>T
ENST00000366777.3:c.993C>T ENSP00000355739.3:p.Phe331=
ENST00000366778.5:c.837C>T ENSP00000355740.1:p.Phe279=
ENST00000366779.5:c.993C>T ENSP00000355741.1:p.Phe331=
ENST00000478406.5:n.972C>T
ENST00000485462.5:n.383C>T
NM_020247.4:c.993C>T NP_064632.2:p.Phe331=
XM_005273201.1:c.993C>T XP_005273258.1:p.Phe331=
XM_011544238.1:c.993C>T XP_011542540.1:p.Phe331=
XM_011544239.1:c.993C>T XP_011542541.1:p.Phe331=
XM_011544240.1:c.993C>T XP_011542542.1:p.Phe331=
XM_011544241.1:c.993C>T XP_011542543.1:p.Phe331=
XM_011544239.2:c.993C>T XP_011542541.1:p.Phe331=
XM_011544241.2:c.993C>T XP_011542543.1:p.Phe331=
XM_017001852.1:c.993C>T XP_016857341.1:p.Phe331=
XM_024448517.1:c.993C>T XP_024304285.1:p.Phe331=
XM_024448518.1:c.993C>T XP_024304286.1:p.Phe331=
NM_020247.5:c.993C>T MANE Select NP_064632.2:p.Phe331=