Canonical Allele Identifier: CA379813064
Gene: OTOG HGNC NCBI

Linked Data

ClinVar Variation Id: 2507091
ClinVar RCV Id: RCV003238982
dbSNP Id: rs1474069594
gnomAD v2: 11-17656707-G-A
gnomAD v3: 11-17635160-G-A
gnomAD v4: 11-17635160-G-A
MyVariant Identifiers: chr11:g.17656707G>A (hg19) chr11:g.17635160G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17635160G>A , CM000673.2:g.17635160G>A GRCh38
NC_000011.9:g.17656707G>A , CM000673.1:g.17656707G>A GRCh37
NC_000011.8:g.17613283G>A NCBI36
NG_033191.1:g.92788G>A
NG_033191.2:g.92788G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.7702G>A ENSP00000382323.2:p.Asp2568Asn
ENST00000399397.6:c.7666G>A MANE Select ENSP00000382329.2:p.Asp2556Asn
ENST00000342528.2:c.4322-450G>A ENSP00000341666.2:n.4322-450G>A
ENST00000399391.6:c.7702G>A ENSP00000382323.2:p.Asp2568Asn
ENST00000399397.5:c.7666G>A ENSP00000382329.2:p.Asp2556Asn
NM_001277269.1:c.7702G>A NP_001264198.1:p.Asp2568Asn
NM_001292063.1:c.7666G>A NP_001278992.1:p.Asp2556Asn
NM_001277269.2:c.7702G>A NP_001264198.1:p.Asp2568Asn
NM_001292063.2:c.7666G>A MANE Select NP_001278992.1:p.Asp2556Asn
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