Linked Data
ClinVar Variation Id:
2177910
ClinVar RCV Id:
RCV002588419
dbSNP Id:
rs763502163
ExAC:
10:73494027 C / T
gnomAD v2:
10-73494027-C-T
gnomAD v3:
10-71734270-C-T
gnomAD v4:
10-71734270-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71734270C>T , CM000672.2:g.71734270C>T | GRCh38 |
| NC_000010.10:g.73494027C>T , CM000672.1:g.73494027C>T | GRCh37 |
| NC_000010.9:g.73164033C>T | NCBI36 |
| NG_008835.1:g.342324C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.4135C>T (CDH23) MANE Select | ENSP00000224721.9:p.Arg1379Cys | |
| ENST00000224721.10:c.4150C>T (CDH23) | ENSP00000224721.8:p.Arg1384Cys | |
| ENST00000398786.2:c.-6+3458G>A (C10orf105) | ENSP00000381766.3:n.-6+3458G>A | |
| ENST00000398792.3:n.827C>T (CDH23) | ||
| ENST00000622827.4:c.4135C>T (CDH23) | ENSP00000483211.1:p.Arg1379Cys | |
| NM_001168390.1:c.-6+3458G>A (C10orf105) | NP_001161862.1:n.-6+3458G>A | |
| NM_022124.5:c.4135C>T (CDH23) | NP_071407.4:p.Arg1379Cys | |
| XM_006717940.2:c.4330C>T (CDH23) | XP_006718003.1:p.Arg1444Cys | |
| XM_006717942.2:c.4264C>T (CDH23) | XP_006718005.1:p.Arg1422Cys | |
| XM_011540039.1:c.4330C>T (CDH23) | XP_011538341.1:p.Arg1444Cys | |
| XM_011540040.1:c.4324C>T (CDH23) | XP_011538342.1:p.Arg1442Cys | |
| XM_011540041.1:c.4270C>T (CDH23) | XP_011538343.1:p.Arg1424Cys | |
| XM_011540042.1:c.4330C>T (CDH23) | XP_011538344.1:p.Arg1444Cys | |
| XM_011540043.1:c.4330C>T (CDH23) | XP_011538345.1:p.Arg1444Cys | |
| XM_011540044.1:c.4195C>T (CDH23) | XP_011538346.1:p.Arg1399Cys | |
| XM_011540045.1:c.4330C>T (CDH23) | XP_011538347.1:p.Arg1444Cys | |
| XM_011540046.1:c.3790C>T (CDH23) | XP_011538348.1:p.Arg1264Cys | |
| XM_011540047.1:c.3148C>T (CDH23) | XP_011538349.1:p.Arg1050Cys | |
| XM_011540048.1:c.4330C>T (CDH23) | XP_011538350.1:p.Arg1444Cys | |
| XM_011540049.1:c.4330C>T (CDH23) | XP_011538351.1:p.Arg1444Cys | |
| XM_011540050.1:c.4330C>T (CDH23) | XP_011538352.1:p.Arg1444Cys | |
| XM_011540051.1:c.4330C>T (CDH23) | XP_011538353.1:p.Arg1444Cys | |
| XM_011540052.1:c.658C>T (CDH23) | XP_011538354.1:p.Arg220Cys | |
| XM_011540053.1:c.4330C>T (CDH23) | XP_011538355.1:p.Arg1444Cys | |
| XR_945796.1:n.4573C>T (CDH23) | ||
| NM_001168390.2:c.-6+3458G>A (C10orf105) | NP_001161862.1:n.-6+3458G>A | |
| NM_022124.6:c.4135C>T (CDH23) MANE Select | NP_071407.4:p.Arg1379Cys |