Canonical Allele Identifier: CA529184966

Gene: COQ8A

Linked Data

• dbSNP Id: rs1256235907
• gnomAD v2: 1-227170942-AG-A
• gnomAD v3: 1-226983241-AG-A
• gnomAD v4: 1-226983241-AG-A
• MyVariant Identifiers: chr1:g.227170943del (hg19) ; chr1:g.226983242del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983245del , CM000663.2:g.226983245del	GRCh38
NC_000001.10:g.227170946del , CM000663.1:g.227170946del	GRCh37
NC_000001.9:g.225237569del	NCBI36
NG_012825.1:g.48009del
NG_012825.2:g.90710del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1080+211del MANE Select	ENSP00000355739.3:n.1080+211del
ENST00000366779.6:c.*5807+211del	ENSP00000355741.2:n.*5807+211del
ENST00000676884.1:c.*5929+211del	ENSP00000503200.1:n.*5929+211del
ENST00000366777.3:c.1080+211del	ENSP00000355739.3:n.1080+211del
ENST00000366778.5:c.924+211del	ENSP00000355740.1:n.924+211del
ENST00000366779.5:c.1080+211del	ENSP00000355741.1:n.1080+211del
ENST00000478406.5:n.1270del
ENST00000479852.1:n.28+211del
ENST00000485462.5:n.470+211del
NM_020247.4:c.1080+211del	NP_064632.2:n.1080+211del
XM_005273201.1:c.1080+211del	XP_005273258.1:n.1080+211del
XM_011544238.1:c.1080+211del	XP_011542540.1:n.1080+211del
XM_011544239.1:c.1080+211del	XP_011542541.1:n.1080+211del
XM_011544240.1:c.1080+211del	XP_011542542.1:n.1080+211del
XM_011544241.1:c.1080+211del	XP_011542543.1:n.1080+211del
XM_011544239.2:c.1080+211del	XP_011542541.1:n.1080+211del
XM_011544241.2:c.1080+211del	XP_011542543.1:n.1080+211del
XM_017001852.1:c.1080+211del	XP_016857341.1:n.1080+211del
XM_024448517.1:c.1080+211del	XP_024304285.1:n.1080+211del
XM_024448518.1:c.1080+211del	XP_024304286.1:n.1080+211del
NM_020247.5:c.1080+211del MANE Select	NP_064632.2:n.1080+211del