Linked Data
ClinVar Variation Id:
300429
dbSNP Id:
rs762247872
ExAC:
10:73492131 C / T
gnomAD v2:
10-73492131-C-T
gnomAD v3:
10-71732374-C-T
gnomAD v4:
10-71732374-C-T
PubMed:
PMID:22899989
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71732374C>T , CM000672.2:g.71732374C>T | GRCh38 |
| NC_000010.10:g.73492131C>T , CM000672.1:g.73492131C>T | GRCh37 |
| NC_000010.9:g.73162137C>T | NCBI36 |
| NG_008835.1:g.340428C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.4103C>T (CDH23) MANE Select | ENSP00000224721.9:p.Thr1368Met | |
| ENST00000398809.9:c.4100C>T (CDH23) | ENSP00000381789.5:p.Thr1367Met | |
| ENST00000224721.10:c.4118C>T (CDH23) | ENSP00000224721.8:p.Thr1373Met | |
| ENST00000398786.2:c.-6+5354G>A (C10orf105) | ENSP00000381766.3:n.-6+5354G>A | |
| ENST00000398792.3:n.795C>T (CDH23) | ||
| ENST00000398809.8:c.4100C>T (CDH23) | ENSP00000381789.5:p.Thr1367Met | |
| ENST00000616684.4:c.4103C>T (CDH23) | ENSP00000482036.2:p.Thr1368Met | |
| ENST00000622827.4:c.4103C>T (CDH23) | ENSP00000483211.1:p.Thr1368Met | |
| NM_001168390.1:c.-6+5354G>A (C10orf105) | NP_001161862.1:n.-6+5354G>A | |
| NM_001171930.1:c.4103C>T (CDH23) | NP_001165401.1:p.Thr1368Met | |
| NM_022124.5:c.4103C>T (CDH23) | NP_071407.4:p.Thr1368Met | |
| XM_006717940.2:c.4298C>T (CDH23) | XP_006718003.1:p.Thr1433Met | |
| XM_006717942.2:c.4232C>T (CDH23) | XP_006718005.1:p.Thr1411Met | |
| XM_011540039.1:c.4298C>T (CDH23) | XP_011538341.1:p.Thr1433Met | |
| XM_011540040.1:c.4292C>T (CDH23) | XP_011538342.1:p.Thr1431Met | |
| XM_011540041.1:c.4238C>T (CDH23) | XP_011538343.1:p.Thr1413Met | |
| XM_011540042.1:c.4298C>T (CDH23) | XP_011538344.1:p.Thr1433Met | |
| XM_011540043.1:c.4298C>T (CDH23) | XP_011538345.1:p.Thr1433Met | |
| XM_011540044.1:c.4163C>T (CDH23) | XP_011538346.1:p.Thr1388Met | |
| XM_011540045.1:c.4298C>T (CDH23) | XP_011538347.1:p.Thr1433Met | |
| XM_011540046.1:c.3758C>T (CDH23) | XP_011538348.1:p.Thr1253Met | |
| XM_011540047.1:c.3116C>T (CDH23) | XP_011538349.1:p.Thr1039Met | |
| XM_011540048.1:c.4298C>T (CDH23) | XP_011538350.1:p.Thr1433Met | |
| XM_011540049.1:c.4298C>T (CDH23) | XP_011538351.1:p.Thr1433Met | |
| XM_011540050.1:c.4298C>T (CDH23) | XP_011538352.1:p.Thr1433Met | |
| XM_011540051.1:c.4298C>T (CDH23) | XP_011538353.1:p.Thr1433Met | |
| XM_011540052.1:c.626C>T (CDH23) | XP_011538354.1:p.Thr209Met | |
| XM_011540053.1:c.4298C>T (CDH23) | XP_011538355.1:p.Thr1433Met | |
| XR_945796.1:n.4541C>T (CDH23) | ||
| NM_001168390.2:c.-6+5354G>A (C10orf105) | NP_001161862.1:n.-6+5354G>A | |
| NM_001171930.2:c.4103C>T (CDH23) | NP_001165401.1:p.Thr1368Met | |
| NM_022124.6:c.4103C>T (CDH23) MANE Select | NP_071407.4:p.Thr1368Met |