Canonical Allele Identifier: CA2650793380

Gene: COQ8A

Linked Data

• gnomAD v4: 1-226982963-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226982965del , CM000663.2:g.226982965del	GRCh38
NC_000001.10:g.227170666del , CM000663.1:g.227170666del	GRCh37
NC_000001.9:g.225237289del	NCBI36
NG_012825.1:g.47729del
NG_012825.2:g.90430del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1011del MANE Select	ENSP00000355739.3:p.Ala338ProfsTer12
ENST00000366779.6:c.*5738del	ENSP00000355741.2:n.*5738del
ENST00000676884.1:c.*5860del	ENSP00000503200.1:n.*5860del
ENST00000366777.3:c.1011del	ENSP00000355739.3:p.Ala338ProfsTer12
ENST00000366778.5:c.855del	ENSP00000355740.1:p.Ala286ProfsTer12
ENST00000366779.5:c.1011del	ENSP00000355741.1:p.Ala338ProfsTer12
ENST00000478406.5:n.990del
ENST00000485462.5:n.401del
NM_020247.4:c.1011del	NP_064632.2:p.Ala338ProfsTer12
XM_005273201.1:c.1011del	XP_005273258.1:p.Ala338ProfsTer12
XM_011544238.1:c.1011del	XP_011542540.1:p.Ala338ProfsTer12
XM_011544239.1:c.1011del	XP_011542541.1:p.Ala338ProfsTer12
XM_011544240.1:c.1011del	XP_011542542.1:p.Ala338ProfsTer12
XM_011544241.1:c.1011del	XP_011542543.1:p.Ala338ProfsTer12
XM_011544239.2:c.1011del	XP_011542541.1:p.Ala338ProfsTer12
XM_011544241.2:c.1011del	XP_011542543.1:p.Ala338ProfsTer12
XM_017001852.1:c.1011del	XP_016857341.1:p.Ala338ProfsTer12
XM_024448517.1:c.1011del	XP_024304285.1:p.Ala338ProfsTer12
XM_024448518.1:c.1011del	XP_024304286.1:p.Ala338ProfsTer12
NM_020247.5:c.1011del MANE Select	NP_064632.2:p.Ala338ProfsTer12