Canonical Allele Identifier: CA2650795466

Gene: COQ8A

Linked Data

• gnomAD v4: 1-226984535-G-GCGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226984536_226984539dup , CM000663.2:g.226984536_226984539dup	GRCh38
NC_000001.10:g.227172237_227172240dup , CM000663.1:g.227172237_227172240dup	GRCh37
NC_000001.9:g.225238860_225238863dup	NCBI36
NG_012825.1:g.49300_49303dup
NG_012825.2:g.92001_92004dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1399-12_1399-9dup MANE Select	ENSP00000355739.3:n.1399-12_1399-9dup
ENST00000366779.6:c.*6126-12_*6126-9dup	ENSP00000355741.2:n.*6126-12_*6126-9dup
ENST00000366777.3:c.1399-12_1399-9dup	ENSP00000355739.3:n.1399-12_1399-9dup
ENST00000366778.5:c.1243-12_1243-9dup	ENSP00000355740.1:n.1243-12_1243-9dup
ENST00000366779.5:c.1399-12_1399-9dup	ENSP00000355741.1:n.1399-12_1399-9dup
ENST00000478406.5:n.2261-12_2261-9dup
ENST00000479852.1:n.586-12_586-9dup
ENST00000485462.5:n.789-12_789-9dup
NM_020247.4:c.1399-12_1399-9dup	NP_064632.2:n.1399-12_1399-9dup
XM_005273201.1:c.1399-12_1399-9dup	XP_005273258.1:n.1399-12_1399-9dup
XM_011544238.1:c.1399-12_1399-9dup	XP_011542540.1:n.1399-12_1399-9dup
XM_011544239.1:c.1399-12_1399-9dup	XP_011542541.1:n.1399-12_1399-9dup
XM_011544240.1:c.1399-12_1399-9dup	XP_011542542.1:n.1399-12_1399-9dup
XM_011544241.1:c.1399-12_1399-9dup	XP_011542543.1:n.1399-12_1399-9dup
XM_011544239.2:c.1399-12_1399-9dup	XP_011542541.1:n.1399-12_1399-9dup
XM_011544241.2:c.1399-12_1399-9dup	XP_011542543.1:n.1399-12_1399-9dup
XM_017001852.1:c.1399-12_1399-9dup	XP_016857341.1:n.1399-12_1399-9dup
XM_024448517.1:c.1399-12_1399-9dup	XP_024304285.1:n.1399-12_1399-9dup
XM_024448518.1:c.1399-12_1399-9dup	XP_024304286.1:n.1399-12_1399-9dup
NM_020247.5:c.1399-12_1399-9dup MANE Select	NP_064632.2:n.1399-12_1399-9dup