gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.96024924 (AFR)
Genomes Max Group AF
0.96024924 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71767290A>G , CM000672.2:g.71767290A>G | GRCh38 |
| NC_000010.10:g.73527047A>G , CM000672.1:g.73527047A>G | GRCh37 |
| NC_000010.9:g.73197053A>G | NCBI36 |
| NG_008835.1:g.375344A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.4846-10390A>G (CDH23) MANE Select | ENSP00000224721.9:n.4846-10390A>G | |
| ENST00000394957.8:c.83-5264T>C (VSIR) MANE Select | ENSP00000378409.3:n.83-5264T>C | |
| ENST00000224721.10:c.4861-10390A>G (CDH23) | ENSP00000224721.8:n.4861-10390A>G | |
| ENST00000394957.7:c.83-5264T>C (VSIR) | ENSP00000378409.3:n.83-5264T>C | |
| ENST00000622827.4:c.4846-10390A>G (CDH23) | ENSP00000483211.1:n.4846-10390A>G | |
| NM_022124.5:c.4846-10390A>G (CDH23) | NP_071407.4:n.4846-10390A>G | |
| NM_022153.1:c.83-5264T>C (VSIR) | NP_071436.1:n.83-5264T>C | |
| XM_006717940.2:c.5041-10390A>G (CDH23) | XP_006718003.1:n.5041-10390A>G | |
| XM_006717942.2:c.4975-10390A>G (CDH23) | XP_006718005.1:n.4975-10390A>G | |
| XM_011540039.1:c.5038-10390A>G (CDH23) | XP_011538341.1:n.5038-10390A>G | |
| XM_011540040.1:c.5035-10390A>G (CDH23) | XP_011538342.1:n.5035-10390A>G | |
| XM_011540041.1:c.4981-10390A>G (CDH23) | XP_011538343.1:n.4981-10390A>G | |
| XM_011540042.1:c.5041-10390A>G (CDH23) | XP_011538344.1:n.5041-10390A>G | |
| XM_011540043.1:c.5041-10390A>G (CDH23) | XP_011538345.1:n.5041-10390A>G | |
| XM_011540044.1:c.4906-10390A>G (CDH23) | XP_011538346.1:n.4906-10390A>G | |
| XM_011540045.1:c.5041-10390A>G (CDH23) | XP_011538347.1:n.5041-10390A>G | |
| XM_011540046.1:c.4501-10390A>G (CDH23) | XP_011538348.1:n.4501-10390A>G | |
| XM_011540047.1:c.3859-10390A>G (CDH23) | XP_011538349.1:n.3859-10390A>G | |
| XM_011540048.1:c.5041-10390A>G (CDH23) | XP_011538350.1:n.5041-10390A>G | |
| XM_011540049.1:c.5041-10390A>G (CDH23) | XP_011538351.1:n.5041-10390A>G | |
| XM_011540050.1:c.5041-10390A>G (CDH23) | XP_011538352.1:n.5041-10390A>G | |
| XM_011540051.1:c.5041-10390A>G (CDH23) | XP_011538353.1:n.5041-10390A>G | |
| XM_011540052.1:c.1369-10390A>G (CDH23) | XP_011538354.1:n.1369-10390A>G | |
| XM_011540053.1:c.5041-10390A>G (CDH23) | XP_011538355.1:n.5041-10390A>G | |
| XM_011540061.1:c.82+6068T>C (VSIR) | XP_011538363.1:n.82+6068T>C | |
| XR_945796.1:n.5284-10390A>G (CDH23) | ||
| NM_022153.2:c.83-5264T>C (VSIR) MANE Select | NP_071436.1:n.83-5264T>C | |
| NM_022124.6:c.4846-10390A>G (CDH23) MANE Select | NP_071407.4:n.4846-10390A>G |