Human (GRCh38.p14)
Description

otoferlin [Source:HGNC Symbol;Acc:HGNC:8515]

Gene Synonyms

DFNB6, DFNB9, FER1L2

Location
About this transcript

This transcript has 47 exons, is annotated with 63 domains and features, is associated with 48452 variant alleles and maps to 1126 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000272371.7OTOF-20172141997aaENSP00000272371.2
 
Protein coding
CCDS1725Q9HC10-1 NM_194248.3MANE SelectEnsembl CanonicalGENCODE basicAPPRIS ALT1TSL:1
ENST00000403946.7OTOF-20569371997aaENSP00000385255.3
 
Protein coding
CCDS74497Q9HC10-5 -GENCODE basicAPPRIS P4TSL:5
ENST00000402415.8OTOF-20451081250aaENSP00000383906.4
 
Protein coding
A0A2U3TZT7 -GENCODE basicTSL:1
ENST00000338581.10OTOF-20249541230aaENSP00000345137.6
 
Protein coding
CCDS1726Q9HC10-4 -GENCODE basicTSL:1
ENST00000339598.8OTOF-20348381230aaENSP00000344521.3
 
Protein coding
CCDS1724Q9HC10-2 NM_194323.3MANE Plus ClinicalGENCODE basicTSL:1
ENST00000426958.1OTOF-206557141aaENSP00000389917.1
 
Protein coding
H7BZJ5 -TSL:3CDS 5' incomplete
ENST00000464574.1OTOF-207918No protein-
 
Retained intron
--TSL:5
Statistics

Exons: 47, Coding exons: 46, Transcript length: 7,214 bps, Translation length: 1,997 residues

MANE

This MANE Select transcript contains ENSP00000272371 and matches to NM_194248.3 and NP_919224.1

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q9HC10

CCDS

This transcript is a member of the Human CCDS set: CCDS1725

Transcript Support Level (TSL)

TSL:1

Version

ENST00000272371.7

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.