Canonical Allele Identifier: CA057295

Gene: COQ8A

Linked Data

• PubMed: PMID:18319072 ; PMID:20580948

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.[226982996C>T;226985332G>A] , CM000663.2:g.[226982996C>T;226985332G>A]	GRCh38
NC_000001.10:g.[227170697C>T;227173033G>A] , CM000663.1:g.[227170697C>T;227173033G>A]	GRCh37
NC_000001.9:g.[225237320C>T;225239656G>A]	NCBI36
NG_012825.1:g.[47760C>T;50096G>A]
NG_012825.2:g.[90461C>T;92797G>A]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.[1042C>T;1651G>A] MANE Select	ENSP00000355739.3:p.Arg348Ter
ENST00000366779.6:c.[*5769C>T;*6378G>A]	ENSP00000355741.2:n.[*5769C>T;*6378G>A]
ENST00000366777.3:c.[1042C>T;1651G>A]	ENSP00000355739.3:p.Arg348Ter
ENST00000366778.5:c.[886C>T;1495G>A]	ENSP00000355740.1:p.Arg296Ter
ENST00000366779.5:c.[1042C>T;1651G>A]	ENSP00000355741.1:p.Arg348Ter
ENST00000478406.5:n.[1021C>T;2513G>A]
ENST00000485462.5:n.[432C>T;1041G>A]
NM_020247.4:c.[1042C>T;1651G>A]	NP_064632.2:p.Arg348Ter
XM_005273201.1:c.[1042C>T;1651G>A]	XP_005273258.1:p.Arg348Ter
XM_011544238.1:c.[1042C>T;1651G>A]	XP_011542540.1:p.Arg348Ter
XM_011544239.1:c.[1042C>T;1651G>A]	XP_011542541.1:p.Arg348Ter
XM_011544240.1:c.[1042C>T;1651G>A]	XP_011542542.1:p.Arg348Ter
XM_011544241.1:c.[1042C>T;1651G>A]	XP_011542543.1:p.Arg348Ter
XM_011544239.2:c.[1042C>T;1651G>A]	XP_011542541.1:p.Arg348Ter
XM_011544241.2:c.[1042C>T;1651G>A]	XP_011542543.1:p.Arg348Ter
XM_017001852.1:c.[1042C>T;1651G>A]	XP_016857341.1:p.Arg348Ter
XM_024448517.1:c.[1042C>T;1651G>A]	XP_024304285.1:p.Arg348Ter
XM_024448518.1:c.[1042C>T;1651G>A]	XP_024304286.1:p.Arg348Ter
NM_020247.5:c.[1042C>T;1651G>A] MANE Select	NP_064632.2:p.Arg348Ter