Canonical Allele Identifier: CA1143606457

Gene: COQ8A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226982984G= , CM000663.2:g.226982984G=	GRCh38
NC_000001.10:g.227170685G= , CM000663.1:g.227170685G=	GRCh37
NC_000001.9:g.225237308G=	NCBI36
NG_012825.1:g.47748G=
NG_012825.2:g.90449G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1030G= MANE Select	ENSP00000355739.3:p.Val344=
ENST00000366779.6:c.*5757G=	ENSP00000355741.2:n.*5757G=
ENST00000676884.1:c.*5879G=	ENSP00000503200.1:n.*5879G=
ENST00000366777.3:c.1030G=	ENSP00000355739.3:p.Val344=
ENST00000366778.5:c.874G=	ENSP00000355740.1:p.Val292=
ENST00000366779.5:c.1030G=	ENSP00000355741.1:p.Val344=
ENST00000478406.5:n.1009G=
ENST00000485462.5:n.420G=
NM_020247.4:c.1030G=	NP_064632.2:p.Val344=
XM_005273201.1:c.1030G=	XP_005273258.1:p.Val344=
XM_011544238.1:c.1030G=	XP_011542540.1:p.Val344=
XM_011544239.1:c.1030G=	XP_011542541.1:p.Val344=
XM_011544240.1:c.1030G=	XP_011542542.1:p.Val344=
XM_011544241.1:c.1030G=	XP_011542543.1:p.Val344=
XM_011544239.2:c.1030G=	XP_011542541.1:p.Val344=
XM_011544241.2:c.1030G=	XP_011542543.1:p.Val344=
XM_017001852.1:c.1030G=	XP_016857341.1:p.Val344=
XM_024448517.1:c.1030G=	XP_024304285.1:p.Val344=
XM_024448518.1:c.1030G=	XP_024304286.1:p.Val344=
NM_020247.5:c.1030G= MANE Select	NP_064632.2:p.Val344=