Canonical Allele Identifier: CA2650795980

Gene: COQ8A

Linked Data

• gnomAD v4: 1-226984785-T-TCACTGCCCTCTGTTGCACCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226984787_226984807dup , CM000663.2:g.226984787_226984807dup	GRCh38
NC_000001.10:g.227172488_227172508dup , CM000663.1:g.227172488_227172508dup	GRCh37
NC_000001.9:g.225239111_225239131dup	NCBI36
NG_012825.1:g.49551_49571dup
NG_012825.2:g.92252_92272dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1507-89_1507-69dup MANE Select	ENSP00000355739.3:n.1507-89_1507-69dup
ENST00000366779.6:c.*6234-89_*6234-69dup	ENSP00000355741.2:n.*6234-89_*6234-69dup
ENST00000366777.3:c.1507-89_1507-69dup	ENSP00000355739.3:n.1507-89_1507-69dup
ENST00000366778.5:c.1351-89_1351-69dup	ENSP00000355740.1:n.1351-89_1351-69dup
ENST00000366779.5:c.1507-89_1507-69dup	ENSP00000355741.1:n.1507-89_1507-69dup
ENST00000478406.5:n.2369-89_2369-69dup
ENST00000479852.1:n.694-89_694-69dup
ENST00000485462.5:n.897-89_897-69dup
NM_020247.4:c.1507-89_1507-69dup	NP_064632.2:n.1507-89_1507-69dup
XM_005273201.1:c.1507-89_1507-69dup	XP_005273258.1:n.1507-89_1507-69dup
XM_011544238.1:c.1507-89_1507-69dup	XP_011542540.1:n.1507-89_1507-69dup
XM_011544239.1:c.1507-89_1507-69dup	XP_011542541.1:n.1507-89_1507-69dup
XM_011544240.1:c.1507-89_1507-69dup	XP_011542542.1:n.1507-89_1507-69dup
XM_011544241.1:c.1507-89_1507-69dup	XP_011542543.1:n.1507-89_1507-69dup
XM_011544239.2:c.1507-89_1507-69dup	XP_011542541.1:n.1507-89_1507-69dup
XM_011544241.2:c.1507-89_1507-69dup	XP_011542543.1:n.1507-89_1507-69dup
XM_017001852.1:c.1507-89_1507-69dup	XP_016857341.1:n.1507-89_1507-69dup
XM_024448517.1:c.1507-89_1507-69dup	XP_024304285.1:n.1507-89_1507-69dup
XM_024448518.1:c.1507-89_1507-69dup	XP_024304286.1:n.1507-89_1507-69dup
NM_020247.5:c.1507-89_1507-69dup MANE Select	NP_064632.2:n.1507-89_1507-69dup