Canonical Allele Identifier: CA2650793546

Gene: COQ8A

Linked Data

• gnomAD v4: 1-226983174-C-CCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983175_226983178dup , CM000663.2:g.226983175_226983178dup	GRCh38
NC_000001.10:g.227170876_227170879dup , CM000663.1:g.227170876_227170879dup	GRCh37
NC_000001.9:g.225237499_225237502dup	NCBI36
NG_012825.1:g.47939_47942dup
NG_012825.2:g.90640_90643dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1080+141_1080+144dup MANE Select	ENSP00000355739.3:n.1080+141_1080+144dup
ENST00000366779.6:c.*5807+141_*5807+144dup	ENSP00000355741.2:n.*5807+141_*5807+144dup
ENST00000676884.1:c.*5929+141_*5929+144dup	ENSP00000503200.1:n.*5929+141_*5929+144dup
ENST00000366777.3:c.1080+141_1080+144dup	ENSP00000355739.3:n.1080+141_1080+144dup
ENST00000366778.5:c.924+141_924+144dup	ENSP00000355740.1:n.924+141_924+144dup
ENST00000366779.5:c.1080+141_1080+144dup	ENSP00000355741.1:n.1080+141_1080+144dup
ENST00000478406.5:n.1200_1203dup
ENST00000479852.1:n.28+141_28+144dup
ENST00000485462.5:n.470+141_470+144dup
NM_020247.4:c.1080+141_1080+144dup	NP_064632.2:n.1080+141_1080+144dup
XM_005273201.1:c.1080+141_1080+144dup	XP_005273258.1:n.1080+141_1080+144dup
XM_011544238.1:c.1080+141_1080+144dup	XP_011542540.1:n.1080+141_1080+144dup
XM_011544239.1:c.1080+141_1080+144dup	XP_011542541.1:n.1080+141_1080+144dup
XM_011544240.1:c.1080+141_1080+144dup	XP_011542542.1:n.1080+141_1080+144dup
XM_011544241.1:c.1080+141_1080+144dup	XP_011542543.1:n.1080+141_1080+144dup
XM_011544239.2:c.1080+141_1080+144dup	XP_011542541.1:n.1080+141_1080+144dup
XM_011544241.2:c.1080+141_1080+144dup	XP_011542543.1:n.1080+141_1080+144dup
XM_017001852.1:c.1080+141_1080+144dup	XP_016857341.1:n.1080+141_1080+144dup
XM_024448517.1:c.1080+141_1080+144dup	XP_024304285.1:n.1080+141_1080+144dup
XM_024448518.1:c.1080+141_1080+144dup	XP_024304286.1:n.1080+141_1080+144dup
NM_020247.5:c.1080+141_1080+144dup MANE Select	NP_064632.2:n.1080+141_1080+144dup