Linked Data
ClinVar Variation Id:
300431
dbSNP Id:
rs571668370
gnomAD v2:
10-73494071-C-T
gnomAD v3:
10-71734314-C-T
gnomAD v4:
10-71734314-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71734314C>T , CM000672.2:g.71734314C>T | GRCh38 |
| NC_000010.10:g.73494071C>T , CM000672.1:g.73494071C>T | GRCh37 |
| NC_000010.9:g.73164077C>T | NCBI36 |
| NG_008835.1:g.342368C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.4179C>T (CDH23) MANE Select | ENSP00000224721.9:p.Asp1393= | |
| ENST00000224721.10:c.4194C>T (CDH23) | ENSP00000224721.8:p.Asp1398= | |
| ENST00000398786.2:c.-6+3414G>A (C10orf105) | ENSP00000381766.3:n.-6+3414G>A | |
| ENST00000398792.3:n.871C>T (CDH23) | ||
| ENST00000622827.4:c.4179C>T (CDH23) | ENSP00000483211.1:p.Asp1393= | |
| NM_001168390.1:c.-6+3414G>A (C10orf105) | NP_001161862.1:n.-6+3414G>A | |
| NM_022124.5:c.4179C>T (CDH23) | NP_071407.4:p.Asp1393= | |
| XM_006717940.2:c.4374C>T (CDH23) | XP_006718003.1:p.Asp1458= | |
| XM_006717942.2:c.4308C>T (CDH23) | XP_006718005.1:p.Asp1436= | |
| XM_011540039.1:c.4374C>T (CDH23) | XP_011538341.1:p.Asp1458= | |
| XM_011540040.1:c.4368C>T (CDH23) | XP_011538342.1:p.Asp1456= | |
| XM_011540041.1:c.4314C>T (CDH23) | XP_011538343.1:p.Asp1438= | |
| XM_011540042.1:c.4374C>T (CDH23) | XP_011538344.1:p.Asp1458= | |
| XM_011540043.1:c.4374C>T (CDH23) | XP_011538345.1:p.Asp1458= | |
| XM_011540044.1:c.4239C>T (CDH23) | XP_011538346.1:p.Asp1413= | |
| XM_011540045.1:c.4374C>T (CDH23) | XP_011538347.1:p.Asp1458= | |
| XM_011540046.1:c.3834C>T (CDH23) | XP_011538348.1:p.Asp1278= | |
| XM_011540047.1:c.3192C>T (CDH23) | XP_011538349.1:p.Asp1064= | |
| XM_011540048.1:c.4374C>T (CDH23) | XP_011538350.1:p.Asp1458= | |
| XM_011540049.1:c.4374C>T (CDH23) | XP_011538351.1:p.Asp1458= | |
| XM_011540050.1:c.4374C>T (CDH23) | XP_011538352.1:p.Asp1458= | |
| XM_011540051.1:c.4374C>T (CDH23) | XP_011538353.1:p.Asp1458= | |
| XM_011540052.1:c.702C>T (CDH23) | XP_011538354.1:p.Asp234= | |
| XM_011540053.1:c.4374C>T (CDH23) | XP_011538355.1:p.Asp1458= | |
| XR_945796.1:n.4617C>T (CDH23) | ||
| NM_001168390.2:c.-6+3414G>A (C10orf105) | NP_001161862.1:n.-6+3414G>A | |
| NM_022124.6:c.4179C>T (CDH23) MANE Select | NP_071407.4:p.Asp1393= |