Canonical Allele Identifier: CA218478920
Gene: OTOG HGNC NCBI

Linked Data

ClinVar Variation Id: 2976170
ClinVar RCV Id: RCV003836320
dbSNP Id: rs1038338230
gnomAD v2: 11-17634282-C-A
gnomAD v3: 11-17612735-C-A
gnomAD v4: 11-17612735-C-A
MyVariant Identifiers: chr11:g.17634282C>A (hg19) chr11:g.17612735C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17612735C>A , CM000673.2:g.17612735C>A GRCh38
NC_000011.9:g.17634282C>A , CM000673.1:g.17634282C>A GRCh37
NC_000011.8:g.17590858C>A NCBI36
NG_033191.1:g.70363C>A
NG_033191.2:g.70363C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.6444C>A ENSP00000382323.2:p.Val2148=
ENST00000399397.6:c.6408C>A MANE Select ENSP00000382329.2:p.Val2136=
ENST00000342528.2:c.3462C>A ENSP00000341666.2:p.Val1154=
ENST00000399391.6:c.6444C>A ENSP00000382323.2:p.Val2148=
ENST00000399397.5:c.6408C>A ENSP00000382329.2:p.Val2136=
NM_001277269.1:c.6444C>A NP_001264198.1:p.Val2148=
NM_001292063.1:c.6408C>A NP_001278992.1:p.Val2136=
NM_001277269.2:c.6444C>A NP_001264198.1:p.Val2148=
NM_001292063.2:c.6408C>A MANE Select NP_001278992.1:p.Val2136=
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