Canonical Allele Identifier: CA345132
Gene: OTOF HGNC NCBI
ClinGen Evidence Repository:
Classification Pathogenic
Condition nonsyndromic genetic deafness
VCEP Hearing Loss VCEP
MyVariant.info:
GRCh38 chr2:g.26463969C>G
GRCh37 chr2:g.26686837C>G
Revel Score:
ENST00000338581 0.850
ENST00000339598 (MANE Plus Clinical) 0.850
ENST00000402415 0.850
ENST00000272371 (MANE Select) 0.850
ENST00000403946 0.850
gnomAD v2:
2:26686837 C / G
gnomAD v3:
2:26463969 C / G
gnomAD v4:
chr2-26463969-C-G
Joint Max Group AF 0.00294771 (EAS)
Genomes Max Group AF 0.00450259 (EAS)
Exomes Max Group AF 0.00258299 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26463969C>G , CM000664.2:g.26463969C>G GRCh38
NC_000002.11:g.26686837C>G , CM000664.1:g.26686837C>G GRCh37
NC_000002.10:g.26540341C>G NCBI36
NG_009937.1:g.99730G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.5098G>C MANE Select ENSP00000272371.2:p.Glu1700Gln
ENST00000339598.8:c.2797G>C MANE Plus Clinical ENSP00000344521.3:p.Glu933Gln
ENST00000402415.8:c.2857G>C ENSP00000383906.4:p.Glu953Gln
ENST00000272371.6:c.5098G>C ENSP00000272371.2:p.Glu1700Gln
ENST00000338581.10:c.2797G>C ENSP00000345137.6:p.Glu933Gln
ENST00000339598.7:c.2797G>C ENSP00000344521.3:p.Glu933Gln
ENST00000402415.7:c.3028G>C ENSP00000383906.3:p.Glu1010Gln
ENST00000403946.7:c.5098G>C ENSP00000385255.3:p.Glu1700Gln
ENST00000464574.1:n.847G>C
NM_001287489.1:c.5098G>C NP_001274418.1:p.Glu1700Gln
NM_004802.3:c.2797G>C NP_004793.2:p.Glu933Gln
NM_194248.2:c.5098G>C NP_919224.1:p.Glu1700Gln
NM_194322.2:c.3028G>C NP_919303.1:p.Glu1010Gln
NM_194323.2:c.2797G>C NP_919304.1:p.Glu933Gln
XM_005264644.2:c.5083G>C XP_005264701.1:p.Glu1695Gln
XM_011533185.1:c.5143G>C XP_011531487.1:p.Glu1715Gln
XM_017005338.1:c.5038G>C XP_016860827.1:p.Glu1680Gln
NM_001287489.2:c.5098G>C NP_001274418.1:p.Glu1700Gln
NM_004802.4:c.2797G>C NP_004793.2:p.Glu933Gln
NM_194248.3:c.5098G>C MANE Select NP_919224.1:p.Glu1700Gln
NM_194322.3:c.3028G>C NP_919303.1:p.Glu1010Gln
NM_194323.3:c.2797G>C MANE Plus Clinical NP_919304.1:p.Glu933Gln
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