Linked Data
ClinVar Variation Id:
1376738
ClinVar RCV Id:
RCV001912093
dbSNP Id:
rs373422805
ExAC:
10:73490290 G / A
gnomAD v2:
10-73490290-G-A
gnomAD v3:
10-71730533-G-A
gnomAD v4:
10-71730533-G-A
COSMIC:
COSM301906
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71730533G>A , CM000672.2:g.71730533G>A | GRCh38 |
| NC_000010.10:g.73490290G>A , CM000672.1:g.73490290G>A | GRCh37 |
| NC_000010.9:g.73160296G>A | NCBI36 |
| NG_008835.1:g.338587G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.3644G>A (CDH23) MANE Select | ENSP00000224721.9:p.Arg1215His | |
| ENST00000398809.9:c.3641G>A (CDH23) | ENSP00000381789.5:p.Arg1214His | |
| ENST00000224721.10:c.3659G>A (CDH23) | ENSP00000224721.8:p.Arg1220His | |
| ENST00000398786.2:c.-6+7195C>T (C10orf105) | ENSP00000381766.3:n.-6+7195C>T | |
| ENST00000398792.3:n.336G>A (CDH23) | ||
| ENST00000398809.8:c.3641G>A (CDH23) | ENSP00000381789.5:p.Arg1214His | |
| ENST00000616684.4:c.3644G>A (CDH23) | ENSP00000482036.2:p.Arg1215His | |
| ENST00000622827.4:c.3644G>A (CDH23) | ENSP00000483211.1:p.Arg1215His | |
| NM_001168390.1:c.-6+7195C>T (C10orf105) | NP_001161862.1:n.-6+7195C>T | |
| NM_001171930.1:c.3644G>A (CDH23) | NP_001165401.1:p.Arg1215His | |
| NM_022124.5:c.3644G>A (CDH23) | NP_071407.4:p.Arg1215His | |
| XM_006717940.2:c.3839G>A (CDH23) | XP_006718003.1:p.Arg1280His | |
| XM_006717942.2:c.3773G>A (CDH23) | XP_006718005.1:p.Arg1258His | |
| XM_011540039.1:c.3839G>A (CDH23) | XP_011538341.1:p.Arg1280His | |
| XM_011540040.1:c.3833G>A (CDH23) | XP_011538342.1:p.Arg1278His | |
| XM_011540041.1:c.3779G>A (CDH23) | XP_011538343.1:p.Arg1260His | |
| XM_011540042.1:c.3839G>A (CDH23) | XP_011538344.1:p.Arg1280His | |
| XM_011540043.1:c.3839G>A (CDH23) | XP_011538345.1:p.Arg1280His | |
| XM_011540044.1:c.3704G>A (CDH23) | XP_011538346.1:p.Arg1235His | |
| XM_011540045.1:c.3839G>A (CDH23) | XP_011538347.1:p.Arg1280His | |
| XM_011540046.1:c.3299G>A (CDH23) | XP_011538348.1:p.Arg1100His | |
| XM_011540047.1:c.2657G>A (CDH23) | XP_011538349.1:p.Arg886His | |
| XM_011540048.1:c.3839G>A (CDH23) | XP_011538350.1:p.Arg1280His | |
| XM_011540049.1:c.3839G>A (CDH23) | XP_011538351.1:p.Arg1280His | |
| XM_011540050.1:c.3839G>A (CDH23) | XP_011538352.1:p.Arg1280His | |
| XM_011540051.1:c.3839G>A (CDH23) | XP_011538353.1:p.Arg1280His | |
| XM_011540052.1:c.167G>A (CDH23) | XP_011538354.1:p.Arg56His | |
| XM_011540053.1:c.3839G>A (CDH23) | XP_011538355.1:p.Arg1280His | |
| XR_945796.1:n.4082G>A (CDH23) | ||
| NM_001168390.2:c.-6+7195C>T (C10orf105) | NP_001161862.1:n.-6+7195C>T | |
| NM_001171930.2:c.3644G>A (CDH23) | NP_001165401.1:p.Arg1215His | |
| NM_022124.6:c.3644G>A (CDH23) MANE Select | NP_071407.4:p.Arg1215His |