Canonical Allele Identifier: CA1012967372

Gene: COQ8A

Linked Data

• dbSNP Id: rs1659750383
• gnomAD v3: 1-226982337-T-TA
• gnomAD v4: 1-226982337-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226982340dup , CM000663.2:g.226982340dup	GRCh38
NC_000001.10:g.227170041dup , CM000663.1:g.227170041dup	GRCh37
NC_000001.9:g.225236664dup	NCBI36
NG_012825.1:g.47104dup
NG_012825.2:g.89805dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.853+191dup MANE Select	ENSP00000355739.3:n.853+191dup
ENST00000366779.6:c.*5580+191dup	ENSP00000355741.2:n.*5580+191dup
ENST00000676884.1:c.*5702+191dup	ENSP00000503200.1:n.*5702+191dup
ENST00000366777.3:c.853+191dup	ENSP00000355739.3:n.853+191dup
ENST00000366778.5:c.697+191dup	ENSP00000355740.1:n.697+191dup
ENST00000366779.5:c.853+191dup	ENSP00000355741.1:n.853+191dup
ENST00000478406.5:n.495dup
ENST00000485462.5:n.243+191dup
NM_020247.4:c.853+191dup	NP_064632.2:n.853+191dup
XM_005273201.1:c.853+191dup	XP_005273258.1:n.853+191dup
XM_011544238.1:c.853+191dup	XP_011542540.1:n.853+191dup
XM_011544239.1:c.853+191dup	XP_011542541.1:n.853+191dup
XM_011544240.1:c.853+191dup	XP_011542542.1:n.853+191dup
XM_011544241.1:c.853+191dup	XP_011542543.1:n.853+191dup
XM_011544239.2:c.853+191dup	XP_011542541.1:n.853+191dup
XM_011544241.2:c.853+191dup	XP_011542543.1:n.853+191dup
XM_017001852.1:c.853+191dup	XP_016857341.1:n.853+191dup
XM_024448517.1:c.853+191dup	XP_024304285.1:n.853+191dup
XM_024448518.1:c.853+191dup	XP_024304286.1:n.853+191dup
NM_020247.5:c.853+191dup MANE Select	NP_064632.2:n.853+191dup