Canonical Allele Identifier: CA529184892

Gene: COQ8A

Linked Data

• dbSNP Id: rs1488469096
• gnomAD v2: 1-227170747-G-GGCTTTCAGGGTTCTTAAAGAAAGAAA
• gnomAD v4: 1-226983046-G-GGCTTTCAGGGTTCTTAAAGAAAGAAA
• MyVariant Identifiers: chr1:g.227170747_227170748insGCTTTCAGGGTTCTTAAAGAAAGAAA (hg19) ; chr1:g.226983046_226983047insGCTTTCAGGGTTCTTAAAGAAAGAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983046_226983047insGCTTTCAGGGTTCTTAAAGAAAGAAA , CM000663.2:g.226983046_226983047insGCTTTCAGGGTTCTTAAAGAAAGAAA	GRCh38
NC_000001.10:g.227170747_227170748insGCTTTCAGGGTTCTTAAAGAAAGAAA , CM000663.1:g.227170747_227170748insGCTTTCAGGGTTCTTAAAGAAAGAAA	GRCh37
NC_000001.9:g.225237370_225237371insGCTTTCAGGGTTCTTAAAGAAAGAAA	NCBI36
NG_012825.1:g.47810_47811insGCTTTCAGGGTTCTTAAAGAAAGAAA
NG_012825.2:g.90511_90512insGCTTTCAGGGTTCTTAAAGAAAGAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1080+12_1080+13insGCTTTCAGGGTTCTTAAAGAAAGAAA MANE Select	ENSP00000355739.3:n.1080+12_1080+13insGCTTTCAGGGTTCTTAAAGAAAG...
ENST00000366779.6:c.*5807+12_*5807+13insGCTTTCAGGGTTCTTAAAGAAAGAAA	ENSP00000355741.2:n.*5807+12_*5807+13insGCTTTCAGGGTTCTTAAAGAA...
ENST00000676884.1:c.*5929+12_*5929+13insGCTTTCAGGGTTCTTAAAGAAAGAAA	ENSP00000503200.1:n.*5929+12_*5929+13insGCTTTCAGGGTTCTTAAAGAA...
ENST00000366777.3:c.1080+12_1080+13insGCTTTCAGGGTTCTTAAAGAAAGAAA	ENSP00000355739.3:n.1080+12_1080+13insGCTTTCAGGGTTCTTAAAGAAAG...
ENST00000366778.5:c.924+12_924+13insGCTTTCAGGGTTCTTAAAGAAAGAAA	ENSP00000355740.1:n.924+12_924+13insGCTTTCAGGGTTCTTAAAGAAAGAA...
ENST00000366779.5:c.1080+12_1080+13insGCTTTCAGGGTTCTTAAAGAAAGAAA	ENSP00000355741.1:n.1080+12_1080+13insGCTTTCAGGGTTCTTAAAGAAAG...
ENST00000478406.5:n.1071_1072insGCTTTCAGGGTTCTTAAAGAAAGAAA
ENST00000479852.1:n.28+12_28+13insGCTTTCAGGGTTCTTAAAGAAAGAAA
ENST00000485462.5:n.470+12_470+13insGCTTTCAGGGTTCTTAAAGAAAGAAA
NM_020247.4:c.1080+12_1080+13insGCTTTCAGGGTTCTTAAAGAAAGAAA	NP_064632.2:n.1080+12_1080+13insGCTTTCAGGGTTCTTAAAGAAAGAAA
XM_005273201.1:c.1080+12_1080+13insGCTTTCAGGGTTCTTAAAGAAAGAAA	XP_005273258.1:n.1080+12_1080+13insGCTTTCAGGGTTCTTAAAGAAAGAAA...
XM_011544238.1:c.1080+12_1080+13insGCTTTCAGGGTTCTTAAAGAAAGAAA	XP_011542540.1:n.1080+12_1080+13insGCTTTCAGGGTTCTTAAAGAAAGAAA...
XM_011544239.1:c.1080+12_1080+13insGCTTTCAGGGTTCTTAAAGAAAGAAA	XP_011542541.1:n.1080+12_1080+13insGCTTTCAGGGTTCTTAAAGAAAGAAA...
XM_011544240.1:c.1080+12_1080+13insGCTTTCAGGGTTCTTAAAGAAAGAAA	XP_011542542.1:n.1080+12_1080+13insGCTTTCAGGGTTCTTAAAGAAAGAAA...
XM_011544241.1:c.1080+12_1080+13insGCTTTCAGGGTTCTTAAAGAAAGAAA	XP_011542543.1:n.1080+12_1080+13insGCTTTCAGGGTTCTTAAAGAAAGAAA...
XM_011544239.2:c.1080+12_1080+13insGCTTTCAGGGTTCTTAAAGAAAGAAA	XP_011542541.1:n.1080+12_1080+13insGCTTTCAGGGTTCTTAAAGAAAGAAA...
XM_011544241.2:c.1080+12_1080+13insGCTTTCAGGGTTCTTAAAGAAAGAAA	XP_011542543.1:n.1080+12_1080+13insGCTTTCAGGGTTCTTAAAGAAAGAAA...
XM_017001852.1:c.1080+12_1080+13insGCTTTCAGGGTTCTTAAAGAAAGAAA	XP_016857341.1:n.1080+12_1080+13insGCTTTCAGGGTTCTTAAAGAAAGAAA...
XM_024448517.1:c.1080+12_1080+13insGCTTTCAGGGTTCTTAAAGAAAGAAA	XP_024304285.1:n.1080+12_1080+13insGCTTTCAGGGTTCTTAAAGAAAGAAA...
XM_024448518.1:c.1080+12_1080+13insGCTTTCAGGGTTCTTAAAGAAAGAAA	XP_024304286.1:n.1080+12_1080+13insGCTTTCAGGGTTCTTAAAGAAAGAAA...
NM_020247.5:c.1080+12_1080+13insGCTTTCAGGGTTCTTAAAGAAAGAAA MANE Select	NP_064632.2:n.1080+12_1080+13insGCTTTCAGGGTTCTTAAAGAAAGAAA