Canonical Allele Identifier: CA200160

Gene: COQ9

Linked Data

• ClinVar Variation Id: 192296
• ClinVar RCV Id: RCV000172872
• dbSNP Id: rs786205897
• gnomAD v2: 16-57490558-AG-A
• gnomAD v4: 16-57456646-AG-A
• MyVariant Identifiers: chr16:g.57490559del (hg19) ; chr16:g.57456647del (hg38)
• PubMed: PMID:26081641 ; PMID:28125198

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57456647del , CM000678.2:g.57456647del	GRCh38
NC_000016.9:g.57490559del , CM000678.1:g.57490559del	GRCh37
NC_000016.8:g.56048060del	NCBI36
NG_027696.1:g.14223del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262507.11:c.521+1del MANE Select	ENSP00000262507.5:n.521+1del
ENST00000262507.10:c.521+1del	ENSP00000262507.5:n.521+1del
ENST00000562426.5:n.504+21del
ENST00000562734.5:n.546del
ENST00000563166.1:c.303+3732del	ENSP00000455495.1:n.303+3732del
ENST00000563391.1:c.113+1del	ENSP00000455516.1:n.113+1del
ENST00000564115.5:c.521+1del	ENSP00000455256.1:n.521+1del
ENST00000564655.5:c.533+1del	ENSP00000454992.1:n.533+1del
ENST00000565964.5:c.379-1599del	ENSP00000458023.1:n.379-1599del
ENST00000567072.5:c.501+21del	ENSP00000456728.1:n.501+21del
ENST00000567480.1:n.462del
ENST00000567576.1:n.244+1del
ENST00000567933.5:c.379-2918del	ENSP00000456174.1:n.379-2918del
ENST00000568790.5:n.545+1del
NM_020312.3:c.521+1del	NP_064708.1:n.521+1del
NM_020312.4:c.521+1del MANE Select	NP_064708.1:n.521+1del