Linked Data
ClinVar Variation Id:
45923
dbSNP Id:
rs80028391
ExAC:
10:73485272 G / A
gnomAD v2:
10-73485272-G-A
gnomAD v3:
10-71725515-G-A
gnomAD v4:
10-71725515-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71725515G>A , CM000672.2:g.71725515G>A | GRCh38 |
| NC_000010.10:g.73485272G>A , CM000672.1:g.73485272G>A | GRCh37 |
| NC_000010.9:g.73155278G>A | NCBI36 |
| NG_008835.1:g.333569G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.3574G>A (CDH23) MANE Select | ENSP00000224721.9:p.Val1192Ile | |
| ENST00000398809.9:c.3571G>A (CDH23) | ENSP00000381789.5:p.Val1191Ile | |
| ENST00000224721.10:c.3589G>A (CDH23) | ENSP00000224721.8:p.Val1197Ile | |
| ENST00000398786.2:c.-5-9173C>T (C10orf105) | ENSP00000381766.3:n.-5-9173C>T | |
| ENST00000398792.3:n.271+1410G>A (CDH23) | ||
| ENST00000398809.8:c.3571G>A (CDH23) | ENSP00000381789.5:p.Val1191Ile | |
| ENST00000616684.4:c.3574G>A (CDH23) | ENSP00000482036.2:p.Val1192Ile | |
| ENST00000622827.4:c.3574G>A (CDH23) | ENSP00000483211.1:p.Val1192Ile | |
| NM_001168390.1:c.-5-9173C>T (C10orf105) | NP_001161862.1:n.-5-9173C>T | |
| NM_001171930.1:c.3574G>A (CDH23) | NP_001165401.1:p.Val1192Ile | |
| NM_022124.5:c.3574G>A (CDH23) | NP_071407.4:p.Val1192Ile | |
| XM_006717940.2:c.3769G>A (CDH23) | XP_006718003.1:p.Val1257Ile | |
| XM_006717942.2:c.3703G>A (CDH23) | XP_006718005.1:p.Val1235Ile | |
| XM_011539810.1:c.-6+892C>T (C10orf105) | XP_011538112.1:n.-6+892C>T | |
| XM_011540039.1:c.3769G>A (CDH23) | XP_011538341.1:p.Val1257Ile | |
| XM_011540040.1:c.3763G>A (CDH23) | XP_011538342.1:p.Val1255Ile | |
| XM_011540041.1:c.3709G>A (CDH23) | XP_011538343.1:p.Val1237Ile | |
| XM_011540042.1:c.3769G>A (CDH23) | XP_011538344.1:p.Val1257Ile | |
| XM_011540043.1:c.3769G>A (CDH23) | XP_011538345.1:p.Val1257Ile | |
| XM_011540044.1:c.3634G>A (CDH23) | XP_011538346.1:p.Val1212Ile | |
| XM_011540045.1:c.3769G>A (CDH23) | XP_011538347.1:p.Val1257Ile | |
| XM_011540046.1:c.3229G>A (CDH23) | XP_011538348.1:p.Val1077Ile | |
| XM_011540047.1:c.2587G>A (CDH23) | XP_011538349.1:p.Val863Ile | |
| XM_011540048.1:c.3769G>A (CDH23) | XP_011538350.1:p.Val1257Ile | |
| XM_011540049.1:c.3769G>A (CDH23) | XP_011538351.1:p.Val1257Ile | |
| XM_011540050.1:c.3769G>A (CDH23) | XP_011538352.1:p.Val1257Ile | |
| XM_011540051.1:c.3769G>A (CDH23) | XP_011538353.1:p.Val1257Ile | |
| XM_011540052.1:c.97G>A (CDH23) | XP_011538354.1:p.Val33Ile | |
| XM_011540053.1:c.3769G>A (CDH23) | XP_011538355.1:p.Val1257Ile | |
| XR_945796.1:n.4012G>A (CDH23) | ||
| NM_001168390.2:c.-5-9173C>T (C10orf105) | NP_001161862.1:n.-5-9173C>T | |
| NM_001171930.2:c.3574G>A (CDH23) | NP_001165401.1:p.Val1192Ile | |
| NM_022124.6:c.3574G>A (CDH23) MANE Select | NP_071407.4:p.Val1192Ile |