Canonical Allele Identifier: CA1425460

Gene: COQ8A

Linked Data

• ClinVar Variation Id: 2183805
• ClinVar RCV Id: RCV002627851
• dbSNP Id: rs774113750
• ExAC: 1:227171935 A / AGGTTT
• gnomAD v2: 1-227171935-A-AGGTTT
• gnomAD v3: 1-226984234-A-AGGTTT
• gnomAD v4: 1-226984234-A-AGGTTT
• MyVariant Identifiers: chr1:g.227171935_227171936insGGTTT (hg19) ; chr1:g.226984234_226984235insGGTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226984236_226984240dup , CM000663.2:g.226984236_226984240dup	GRCh38
NC_000001.10:g.227171937_227171941dup , CM000663.1:g.227171937_227171941dup	GRCh37
NC_000001.9:g.225238560_225238564dup	NCBI36
NG_012825.1:g.49000_49004dup
NG_012825.2:g.91701_91705dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000366777.4:c.1398+1_1398+5dup
ENST00000366779.6:c.*6125+1_*6125+5dup
ENST00000366777.3:c.1398+1_1398+5dup
ENST00000366778.5:c.1242+1_1242+5dup
ENST00000366779.5:c.1398+1_1398+5dup
ENST00000478406.5:n.2260+1_2260+5dup
ENST00000479852.1:n.585+1_585+5dup
ENST00000485462.5:n.788+1_788+5dup
NM_020247.4:c.1398+1_1398+5dup
XM_005273201.1:c.1398+1_1398+5dup
XM_011544238.1:c.1398+1_1398+5dup
XM_011544239.1:c.1398+1_1398+5dup
XM_011544240.1:c.1398+1_1398+5dup
XM_011544241.1:c.1398+1_1398+5dup
XM_011544239.2:c.1398+1_1398+5dup
XM_011544241.2:c.1398+1_1398+5dup
XM_017001852.1:c.1398+1_1398+5dup
XM_024448517.1:c.1398+1_1398+5dup
XM_024448518.1:c.1398+1_1398+5dup
NM_020247.5:c.1398+1_1398+5dup