Canonical Allele Identifier: CA290451

Gene: COQ9

Linked Data

• ClinVar Variation Id: 136992
• ClinVar RCV Id: RCV000124557 ; RCV000269594 ; RCV002055512
• dbSNP Id: rs181356497
• ExAC: 16:57484939 G / A
• gnomAD v2: 16-57484939-G-A
• gnomAD v3: 16-57451027-G-A
• gnomAD v4: 16-57451027-G-A
• MyVariant Identifiers: chr16:g.57484939G>A (hg19) ; chr16:g.57451027G>A (hg38)
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57451027G>A , CM000678.2:g.57451027G>A	GRCh38
NC_000016.9:g.57484939G>A , CM000678.1:g.57484939G>A	GRCh37
NC_000016.8:g.56042440G>A	NCBI36
NG_027696.1:g.8603G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262507.11:c.74-13G>A MANE Select	ENSP00000262507.5:n.74-13G>A
ENST00000262507.10:c.74-13G>A	ENSP00000262507.5:n.74-13G>A
ENST00000562426.5:n.77-13G>A
ENST00000562734.5:n.98-13G>A
ENST00000563166.1:c.20-13G>A	ENSP00000455495.1:n.20-13G>A
ENST00000563391.1:c.-335-13G>A	ENSP00000455516.1:n.-335-13G>A
ENST00000564115.5:c.74-13G>A	ENSP00000455256.1:n.74-13G>A
ENST00000564655.5:c.74-1G>A	ENSP00000454992.1:n.74-1G>A
ENST00000565964.5:c.74-13G>A	ENSP00000458023.1:n.74-13G>A
ENST00000566388.5:n.155-13G>A
ENST00000567072.5:c.74-13G>A	ENSP00000456728.1:n.74-13G>A
ENST00000567384.1:n.243G>A
ENST00000567933.5:c.74-13G>A	ENSP00000456174.1:n.74-13G>A
ENST00000568790.5:n.98-13G>A
NM_020312.3:c.74-13G>A	NP_064708.1:n.74-13G>A
NM_020312.4:c.74-13G>A MANE Select	NP_064708.1:n.74-13G>A