Canonical Allele Identifier: CA218478404
Gene: OTOG HGNC NCBI

Linked Data

ClinVar Variation Id: 3021721
ClinVar RCV Id: RCV003880304
dbSNP Id: rs977170731
gnomAD v2: 11-17633895-C-T
gnomAD v3: 11-17612348-C-T
gnomAD v4: 11-17612348-C-T
MyVariant Identifiers: chr11:g.17633895C>T (hg19) chr11:g.17612348C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17612348C>T , CM000673.2:g.17612348C>T GRCh38
NC_000011.9:g.17633895C>T , CM000673.1:g.17633895C>T GRCh37
NC_000011.8:g.17590471C>T NCBI36
NG_033191.1:g.69976C>T
NG_033191.2:g.69976C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.6328+18C>T ENSP00000382323.2:n.6328+18C>T
ENST00000399397.6:c.6292+18C>T MANE Select ENSP00000382329.2:n.6292+18C>T
ENST00000342528.2:c.3346+18C>T ENSP00000341666.2:n.3346+18C>T
ENST00000399391.6:c.6328+18C>T ENSP00000382323.2:n.6328+18C>T
ENST00000399397.5:c.6292+18C>T ENSP00000382329.2:n.6292+18C>T
NM_001277269.1:c.6328+18C>T NP_001264198.1:n.6328+18C>T
NM_001292063.1:c.6292+18C>T NP_001278992.1:n.6292+18C>T
NM_001277269.2:c.6328+18C>T NP_001264198.1:n.6328+18C>T
NM_001292063.2:c.6292+18C>T MANE Select NP_001278992.1:n.6292+18C>T
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