Canonical Allele Identifier: CA915942042

Gene: COQ8A

Linked Data

• ClinVar Variation Id: 691646
• ClinVar RCV Id: RCV000852403
• dbSNP Id: rs1572079834

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226982983_226982984delinsCA , CM000663.2:g.226982983_226982984delinsCA	GRCh38
NC_000001.10:g.227170684_227170685delinsCA , CM000663.1:g.227170684_227170685delinsCA	GRCh37
NC_000001.9:g.225237307_225237308delinsCA	NCBI36
NG_012825.1:g.47747_47748delinsCA
NG_012825.2:g.90448_90449delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1029_1030delinsCA MANE Select	ENSP00000355739.3:p.Gln343_Val344delinsHisMet
ENST00000366779.6:c.*5756_*5757delinsCA	ENSP00000355741.2:n.*5756_*5757delinsCA
ENST00000676884.1:c.*5878_*5879delinsCA	ENSP00000503200.1:n.*5878_*5879delinsCA
ENST00000366777.3:c.1029_1030delinsCA	ENSP00000355739.3:p.Gln343_Val344delinsHisMet
ENST00000366778.5:c.873_874delinsCA	ENSP00000355740.1:p.Gln291_Val292delinsHisMet
ENST00000366779.5:c.1029_1030delinsCA	ENSP00000355741.1:p.Gln343_Val344delinsHisMet
ENST00000478406.5:n.1008_1009delinsCA
ENST00000485462.5:n.419_420delinsCA
NM_020247.4:c.1029_1030delinsCA	NP_064632.2:p.Gln343_Val344delinsHisMet
XM_005273201.1:c.1029_1030delinsCA	XP_005273258.1:p.Gln343_Val344delinsHisMet
XM_011544238.1:c.1029_1030delinsCA	XP_011542540.1:p.Gln343_Val344delinsHisMet
XM_011544239.1:c.1029_1030delinsCA	XP_011542541.1:p.Gln343_Val344delinsHisMet
XM_011544240.1:c.1029_1030delinsCA	XP_011542542.1:p.Gln343_Val344delinsHisMet
XM_011544241.1:c.1029_1030delinsCA	XP_011542543.1:p.Gln343_Val344delinsHisMet
XM_011544239.2:c.1029_1030delinsCA	XP_011542541.1:p.Gln343_Val344delinsHisMet
XM_011544241.2:c.1029_1030delinsCA	XP_011542543.1:p.Gln343_Val344delinsHisMet
XM_017001852.1:c.1029_1030delinsCA	XP_016857341.1:p.Gln343_Val344delinsHisMet
XM_024448517.1:c.1029_1030delinsCA	XP_024304285.1:p.Gln343_Val344delinsHisMet
XM_024448518.1:c.1029_1030delinsCA	XP_024304286.1:p.Gln343_Val344delinsHisMet
NM_020247.5:c.1029_1030delinsCA MANE Select	NP_064632.2:p.Gln343_Val344delinsHisMet