Canonical Allele Identifier: CA2650793583

Gene: COQ8A

Linked Data

• gnomAD v4: 1-226983208-G-GTATT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983210_226983213dup , CM000663.2:g.226983210_226983213dup	GRCh38
NC_000001.10:g.227170911_227170914dup , CM000663.1:g.227170911_227170914dup	GRCh37
NC_000001.9:g.225237534_225237537dup	NCBI36
NG_012825.1:g.47974_47977dup
NG_012825.2:g.90675_90678dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1080+176_1080+179dup MANE Select	ENSP00000355739.3:n.1080+176_1080+179dup
ENST00000366779.6:c.*5807+176_*5807+179dup	ENSP00000355741.2:n.*5807+176_*5807+179dup
ENST00000676884.1:c.*5929+176_*5929+179dup	ENSP00000503200.1:n.*5929+176_*5929+179dup
ENST00000366777.3:c.1080+176_1080+179dup	ENSP00000355739.3:n.1080+176_1080+179dup
ENST00000366778.5:c.924+176_924+179dup	ENSP00000355740.1:n.924+176_924+179dup
ENST00000366779.5:c.1080+176_1080+179dup	ENSP00000355741.1:n.1080+176_1080+179dup
ENST00000478406.5:n.1235_1238dup
ENST00000479852.1:n.28+176_28+179dup
ENST00000485462.5:n.470+176_470+179dup
NM_020247.4:c.1080+176_1080+179dup	NP_064632.2:n.1080+176_1080+179dup
XM_005273201.1:c.1080+176_1080+179dup	XP_005273258.1:n.1080+176_1080+179dup
XM_011544238.1:c.1080+176_1080+179dup	XP_011542540.1:n.1080+176_1080+179dup
XM_011544239.1:c.1080+176_1080+179dup	XP_011542541.1:n.1080+176_1080+179dup
XM_011544240.1:c.1080+176_1080+179dup	XP_011542542.1:n.1080+176_1080+179dup
XM_011544241.1:c.1080+176_1080+179dup	XP_011542543.1:n.1080+176_1080+179dup
XM_011544239.2:c.1080+176_1080+179dup	XP_011542541.1:n.1080+176_1080+179dup
XM_011544241.2:c.1080+176_1080+179dup	XP_011542543.1:n.1080+176_1080+179dup
XM_017001852.1:c.1080+176_1080+179dup	XP_016857341.1:n.1080+176_1080+179dup
XM_024448517.1:c.1080+176_1080+179dup	XP_024304285.1:n.1080+176_1080+179dup
XM_024448518.1:c.1080+176_1080+179dup	XP_024304286.1:n.1080+176_1080+179dup
NM_020247.5:c.1080+176_1080+179dup MANE Select	NP_064632.2:n.1080+176_1080+179dup