Linked Data
ClinVar Variation Id:
178602
dbSNP Id:
rs202166096
ExAC:
10:73494095 C / T
gnomAD v2:
10-73494095-C-T
gnomAD v3:
10-71734338-C-T
gnomAD v4:
10-71734338-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71734338C>T , CM000672.2:g.71734338C>T | GRCh38 |
| NC_000010.10:g.73494095C>T , CM000672.1:g.73494095C>T | GRCh37 |
| NC_000010.9:g.73164101C>T | NCBI36 |
| NG_008835.1:g.342392C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.4203C>T (CDH23) MANE Select | ENSP00000224721.9:p.Thr1401= | |
| ENST00000224721.10:c.4218C>T (CDH23) | ENSP00000224721.8:p.Thr1406= | |
| ENST00000398786.2:c.-6+3390G>A (C10orf105) | ENSP00000381766.3:n.-6+3390G>A | |
| ENST00000398792.3:n.895C>T (CDH23) | ||
| ENST00000622827.4:c.4203C>T (CDH23) | ENSP00000483211.1:p.Thr1401= | |
| NM_001168390.1:c.-6+3390G>A (C10orf105) | NP_001161862.1:n.-6+3390G>A | |
| NM_022124.5:c.4203C>T (CDH23) | NP_071407.4:p.Thr1401= | |
| XM_006717940.2:c.4398C>T (CDH23) | XP_006718003.1:p.Thr1466= | |
| XM_006717942.2:c.4332C>T (CDH23) | XP_006718005.1:p.Thr1444= | |
| XM_011540039.1:c.4398C>T (CDH23) | XP_011538341.1:p.Thr1466= | |
| XM_011540040.1:c.4392C>T (CDH23) | XP_011538342.1:p.Thr1464= | |
| XM_011540041.1:c.4338C>T (CDH23) | XP_011538343.1:p.Thr1446= | |
| XM_011540042.1:c.4398C>T (CDH23) | XP_011538344.1:p.Thr1466= | |
| XM_011540043.1:c.4398C>T (CDH23) | XP_011538345.1:p.Thr1466= | |
| XM_011540044.1:c.4263C>T (CDH23) | XP_011538346.1:p.Thr1421= | |
| XM_011540045.1:c.4398C>T (CDH23) | XP_011538347.1:p.Thr1466= | |
| XM_011540046.1:c.3858C>T (CDH23) | XP_011538348.1:p.Thr1286= | |
| XM_011540047.1:c.3216C>T (CDH23) | XP_011538349.1:p.Thr1072= | |
| XM_011540048.1:c.4398C>T (CDH23) | XP_011538350.1:p.Thr1466= | |
| XM_011540049.1:c.4398C>T (CDH23) | XP_011538351.1:p.Thr1466= | |
| XM_011540050.1:c.4398C>T (CDH23) | XP_011538352.1:p.Thr1466= | |
| XM_011540051.1:c.4398C>T (CDH23) | XP_011538353.1:p.Thr1466= | |
| XM_011540052.1:c.726C>T (CDH23) | XP_011538354.1:p.Thr242= | |
| XM_011540053.1:c.4398C>T (CDH23) | XP_011538355.1:p.Thr1466= | |
| XR_945796.1:n.4641C>T (CDH23) | ||
| NM_001168390.2:c.-6+3390G>A (C10orf105) | NP_001161862.1:n.-6+3390G>A | |
| NM_022124.6:c.4203C>T (CDH23) MANE Select | NP_071407.4:p.Thr1401= |