Linked Data
ClinVar Variation Id:
1587928
ClinVar RCV Id:
RCV002095727
dbSNP Id:
rs1401438297
gnomAD v2:
10-73483822-T-C
gnomAD v4:
10-71724065-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71724065T>C , CM000672.2:g.71724065T>C | GRCh38 |
| NC_000010.10:g.73483822T>C , CM000672.1:g.73483822T>C | GRCh37 |
| NC_000010.9:g.73153828T>C | NCBI36 |
| NG_008835.1:g.332119T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.3390T>C (CDH23) MANE Select | ENSP00000224721.9:p.Asp1130= | |
| ENST00000398809.9:c.3387T>C (CDH23) | ENSP00000381789.5:p.Asp1129= | |
| ENST00000224721.10:c.3405T>C (CDH23) | ENSP00000224721.8:p.Asp1135= | |
| ENST00000398786.2:c.-5-7723A>G (C10orf105) | ENSP00000381766.3:n.-5-7723A>G | |
| ENST00000398792.3:n.231T>C (CDH23) | ||
| ENST00000398809.8:c.3387T>C (CDH23) | ENSP00000381789.5:p.Asp1129= | |
| ENST00000616684.4:c.3390T>C (CDH23) | ENSP00000482036.2:p.Asp1130= | |
| ENST00000622827.4:c.3390T>C (CDH23) | ENSP00000483211.1:p.Asp1130= | |
| NM_001168390.1:c.-5-7723A>G (C10orf105) | NP_001161862.1:n.-5-7723A>G | |
| NM_001171930.1:c.3390T>C (CDH23) | NP_001165401.1:p.Asp1130= | |
| NM_022124.5:c.3390T>C (CDH23) | NP_071407.4:p.Asp1130= | |
| XM_006717940.2:c.3585T>C (CDH23) | XP_006718003.1:p.Asp1195= | |
| XM_006717942.2:c.3519T>C (CDH23) | XP_006718005.1:p.Asp1173= | |
| XM_011539810.1:c.-6+2342A>G (C10orf105) | XP_011538112.1:n.-6+2342A>G | |
| XM_011540039.1:c.3585T>C (CDH23) | XP_011538341.1:p.Asp1195= | |
| XM_011540040.1:c.3579T>C (CDH23) | XP_011538342.1:p.Asp1193= | |
| XM_011540041.1:c.3525T>C (CDH23) | XP_011538343.1:p.Asp1175= | |
| XM_011540042.1:c.3585T>C (CDH23) | XP_011538344.1:p.Asp1195= | |
| XM_011540043.1:c.3585T>C (CDH23) | XP_011538345.1:p.Asp1195= | |
| XM_011540044.1:c.3450T>C (CDH23) | XP_011538346.1:p.Asp1150= | |
| XM_011540045.1:c.3585T>C (CDH23) | XP_011538347.1:p.Asp1195= | |
| XM_011540046.1:c.3045T>C (CDH23) | XP_011538348.1:p.Asp1015= | |
| XM_011540047.1:c.2403T>C (CDH23) | XP_011538349.1:p.Asp801= | |
| XM_011540048.1:c.3585T>C (CDH23) | XP_011538350.1:p.Asp1195= | |
| XM_011540049.1:c.3585T>C (CDH23) | XP_011538351.1:p.Asp1195= | |
| XM_011540050.1:c.3585T>C (CDH23) | XP_011538352.1:p.Asp1195= | |
| XM_011540051.1:c.3585T>C (CDH23) | XP_011538353.1:p.Asp1195= | |
| XM_011540052.1:c.-88T>C (CDH23) | XP_011538354.1:n.-88T>C | |
| XM_011540053.1:c.3585T>C (CDH23) | XP_011538355.1:p.Asp1195= | |
| XR_945796.1:n.3828T>C (CDH23) | ||
| NM_001168390.2:c.-5-7723A>G (C10orf105) | NP_001161862.1:n.-5-7723A>G | |
| NM_001171930.2:c.3390T>C (CDH23) | NP_001165401.1:p.Asp1130= | |
| NM_022124.6:c.3390T>C (CDH23) MANE Select | NP_071407.4:p.Asp1130= |