Canonical Allele Identifier: CA2650791122

Gene: COQ8A

Linked Data

• gnomAD v4: 1-226965626-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226965626G>A , CM000663.2:g.226965626G>A	GRCh38
NC_000001.10:g.227153327G>A , CM000663.1:g.227153327G>A	GRCh37
NC_000001.9:g.225219950G>A	NCBI36
NG_012825.1:g.30390G>A
NG_012825.2:g.73091G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000366777.4:c.589-45G>A MANE Select	ENSP00000355739.3:n.589-45G>A
ENST00000366779.6:c.*5316-45G>A	ENSP00000355741.2:n.*5316-45G>A
ENST00000676884.1:c.*5438-45G>A	ENSP00000503200.1:n.*5438-45G>A
ENST00000366777.3:c.589-45G>A	ENSP00000355739.3:n.589-45G>A
ENST00000366778.5:c.433-45G>A	ENSP00000355740.1:n.433-45G>A
ENST00000366779.5:c.589-45G>A	ENSP00000355741.1:n.589-45G>A
ENST00000478406.5:n.107-11823G>A
ENST00000489044.1:n.800-45G>A
NM_020247.4:c.589-45G>A	NP_064632.2:n.589-45G>A
XM_005273201.1:c.589-45G>A	XP_005273258.1:n.589-45G>A
XM_011544238.1:c.589-45G>A	XP_011542540.1:n.589-45G>A
XM_011544239.1:c.589-45G>A	XP_011542541.1:n.589-45G>A
XM_011544240.1:c.589-45G>A	XP_011542542.1:n.589-45G>A
XM_011544241.1:c.589-45G>A	XP_011542543.1:n.589-45G>A
XM_011544239.2:c.589-45G>A	XP_011542541.1:n.589-45G>A
XM_011544241.2:c.589-45G>A	XP_011542543.1:n.589-45G>A
XM_017001852.1:c.589-45G>A	XP_016857341.1:n.589-45G>A
XM_024448517.1:c.589-45G>A	XP_024304285.1:n.589-45G>A
XM_024448518.1:c.589-45G>A	XP_024304286.1:n.589-45G>A
NM_020247.5:c.589-45G>A MANE Select	NP_064632.2:n.589-45G>A