ClinGen Classification:
Classification
Benign
Condition
nonsyndromic genetic deafness
VCEP
Hearing Loss VCEP
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01096547 (SAS)
Genomes Max Group AF
0.01122017 (SAS)
Exomes Max Group AF
0.01082209 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71511216G>A , CM000672.2:g.71511216G>A | GRCh38 |
| NC_000010.10:g.73270973G>A , CM000672.1:g.73270973G>A | GRCh37 |
| NC_000010.9:g.72940979G>A | NCBI36 |
| NG_008835.1:g.119270G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.429+4G>A (CDH23) MANE Select | ENSP00000224721.9:n.429+4G>A | |
| ENST00000398809.9:c.429+4G>A (CDH23) | ENSP00000381789.5:n.429+4G>A | |
| ENST00000442677.4:c.429+4G>A (CDH23) | ENSP00000388894.3:n.429+4G>A | |
| ENST00000646131.1:c.93+4G>A (CDH23) | ENSP00000495098.1:n.93+4G>A | |
| ENST00000224721.10:c.433G>A (CDH23) | ENSP00000224721.8:p.Gly145Arg | |
| ENST00000299366.11:c.429+4G>A (CDH23) | ENSP00000299366.8:n.429+4G>A | |
| ENST00000398809.8:c.429+4G>A (CDH23) | ENSP00000381789.5:n.429+4G>A | |
| ENST00000398842.7:c.252+4G>A (CDH23) | ENSP00000381822.4:n.252+4G>A | |
| ENST00000461841.7:c.429+4G>A (CDH23) | ENSP00000473454.2:n.429+4G>A | |
| ENST00000616684.4:c.429+4G>A (CDH23) | ENSP00000482036.2:n.429+4G>A | |
| ENST00000622827.4:c.429+4G>A (CDH23) | ENSP00000483211.1:n.429+4G>A | |
| NM_001171930.1:c.429+4G>A (CDH23) | NP_001165401.1:n.429+4G>A | |
| NM_001171931.1:c.429+4G>A (CDH23) | NP_001165402.1:n.429+4G>A | |
| NM_001171932.1:c.429+4G>A (CDH23) | NP_001165403.1:n.429+4G>A | |
| NM_022124.5:c.429+4G>A (CDH23) | NP_071407.4:n.429+4G>A | |
| NM_052836.3:c.429+4G>A (CDH23) | NP_443068.1:n.429+4G>A | |
| NR_120672.1:n.143+562C>T (CDH23-AS1) | ||
| XM_006717940.2:c.564+4G>A (CDH23) | XP_006718003.1:n.564+4G>A | |
| XM_006717942.2:c.564+4G>A (CDH23) | XP_006718005.1:n.564+4G>A | |
| XM_011540039.1:c.564+4G>A (CDH23) | XP_011538341.1:n.564+4G>A | |
| XM_011540040.1:c.564+4G>A (CDH23) | XP_011538342.1:n.564+4G>A | |
| XM_011540041.1:c.564+4G>A (CDH23) | XP_011538343.1:n.564+4G>A | |
| XM_011540042.1:c.564+4G>A (CDH23) | XP_011538344.1:n.564+4G>A | |
| XM_011540043.1:c.564+4G>A (CDH23) | XP_011538345.1:n.564+4G>A | |
| XM_011540044.1:c.429+4G>A (CDH23) | XP_011538346.1:n.429+4G>A | |
| XM_011540045.1:c.564+4G>A (CDH23) | XP_011538347.1:n.564+4G>A | |
| XM_011540048.1:c.564+4G>A (CDH23) | XP_011538350.1:n.564+4G>A | |
| XM_011540049.1:c.564+4G>A (CDH23) | XP_011538351.1:n.564+4G>A | |
| XM_011540050.1:c.564+4G>A (CDH23) | XP_011538352.1:n.564+4G>A | |
| XM_011540051.1:c.564+4G>A (CDH23) | XP_011538353.1:n.564+4G>A | |
| XM_011540053.1:c.564+4G>A (CDH23) | XP_011538355.1:n.564+4G>A | |
| XM_011540054.1:c.564+4G>A (CDH23) | XP_011538356.1:n.564+4G>A | |
| XR_945796.1:n.807+4G>A (CDH23) | ||
| NM_001171930.2:c.429+4G>A (CDH23) | NP_001165401.1:n.429+4G>A | |
| NM_001171931.2:c.429+4G>A (CDH23) | NP_001165402.1:n.429+4G>A | |
| NM_022124.6:c.429+4G>A (CDH23) MANE Select | NP_071407.4:n.429+4G>A | |
| NM_052836.4:c.429+4G>A (CDH23) | NP_443068.1:n.429+4G>A | |
| NM_001171932.2:c.429+4G>A (CDH23) | NP_001165403.1:n.429+4G>A |