Canonical Allele Identifier: CA1225123533

Gene: COQ8A

Linked Data

• dbSNP Id: rs1659812728

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983023_226983044dup , CM000663.2:g.226983023_226983044dup	GRCh38
NC_000001.10:g.227170724_227170745dup , CM000663.1:g.227170724_227170745dup	GRCh37
NC_000001.9:g.225237347_225237368dup	NCBI36
NG_012825.1:g.47787_47808dup
NG_012825.2:g.90488_90509dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1069_1080+10dup
ENST00000366779.6:c.*5796_*5807+10dup
ENST00000676884.1:c.*5918_*5929+10dup
ENST00000366777.3:c.1069_1080+10dup
ENST00000366778.5:c.913_924+10dup
ENST00000366779.5:c.1069_1080+10dup
ENST00000478406.5:n.1048_1069dup
ENST00000479852.1:n.17_28+10dup
ENST00000485462.5:n.459_470+10dup
NM_020247.4:c.1069_1080+10dup
XM_005273201.1:c.1069_1080+10dup
XM_011544238.1:c.1069_1080+10dup
XM_011544239.1:c.1069_1080+10dup
XM_011544240.1:c.1069_1080+10dup
XM_011544241.1:c.1069_1080+10dup
XM_011544239.2:c.1069_1080+10dup
XM_011544241.2:c.1069_1080+10dup
XM_017001852.1:c.1069_1080+10dup
XM_024448517.1:c.1069_1080+10dup
XM_024448518.1:c.1069_1080+10dup
NM_020247.5:c.1069_1080+10dup