Canonical Allele Identifier: CA2650793374

Gene: COQ8A

Linked Data

• gnomAD v4: 1-226982880-G-GCC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226982882_226982883dup , CM000663.2:g.226982882_226982883dup	GRCh38
NC_000001.10:g.227170583_227170584dup , CM000663.1:g.227170583_227170584dup	GRCh37
NC_000001.9:g.225237206_225237207dup	NCBI36
NG_012825.1:g.47646_47647dup
NG_012825.2:g.90347_90348dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.940-12_940-11dup MANE Select	ENSP00000355739.3:n.940-12_940-11dup
ENST00000366779.6:c.*5667-12_*5667-11dup	ENSP00000355741.2:n.*5667-12_*5667-11dup
ENST00000676884.1:c.*5789-12_*5789-11dup	ENSP00000503200.1:n.*5789-12_*5789-11dup
ENST00000366777.3:c.940-12_940-11dup	ENSP00000355739.3:n.940-12_940-11dup
ENST00000366778.5:c.784-12_784-11dup	ENSP00000355740.1:n.784-12_784-11dup
ENST00000366779.5:c.940-12_940-11dup	ENSP00000355741.1:n.940-12_940-11dup
ENST00000478406.5:n.919-12_919-11dup
ENST00000485462.5:n.330-12_330-11dup
NM_020247.4:c.940-12_940-11dup	NP_064632.2:n.940-12_940-11dup
XM_005273201.1:c.940-12_940-11dup	XP_005273258.1:n.940-12_940-11dup
XM_011544238.1:c.940-12_940-11dup	XP_011542540.1:n.940-12_940-11dup
XM_011544239.1:c.940-12_940-11dup	XP_011542541.1:n.940-12_940-11dup
XM_011544240.1:c.940-12_940-11dup	XP_011542542.1:n.940-12_940-11dup
XM_011544241.1:c.940-12_940-11dup	XP_011542543.1:n.940-12_940-11dup
XM_011544239.2:c.940-12_940-11dup	XP_011542541.1:n.940-12_940-11dup
XM_011544241.2:c.940-12_940-11dup	XP_011542543.1:n.940-12_940-11dup
XM_017001852.1:c.940-12_940-11dup	XP_016857341.1:n.940-12_940-11dup
XM_024448517.1:c.940-12_940-11dup	XP_024304285.1:n.940-12_940-11dup
XM_024448518.1:c.940-12_940-11dup	XP_024304286.1:n.940-12_940-11dup
NM_020247.5:c.940-12_940-11dup MANE Select	NP_064632.2:n.940-12_940-11dup