Linked Data
ClinVar Variation Id:
4927
ClinVar RCV Id:
RCV000005210
RCV000039159
RCV000086973
RCV000217147
RCV000263856
RCV000787989
RCV002490319
dbSNP Id:
rs41281314
ExAC:
10:73490271 A / G
gnomAD v2:
10-73490271-A-G
gnomAD v3:
10-71730514-A-G
gnomAD v4:
10-71730514-A-G
ERepo:
CA137387/MONDO:0019501/005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71730514A>G , CM000672.2:g.71730514A>G | GRCh38 |
| NC_000010.10:g.73490271A>G , CM000672.1:g.73490271A>G | GRCh37 |
| NC_000010.9:g.73160277A>G | NCBI36 |
| NG_008835.1:g.338568A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.3625A>G (CDH23) MANE Select | ENSP00000224721.9:p.Thr1209Ala | |
| ENST00000398809.9:c.3622A>G (CDH23) | ENSP00000381789.5:p.Thr1208Ala | |
| ENST00000224721.10:c.3640A>G (CDH23) | ENSP00000224721.8:p.Thr1214Ala | |
| ENST00000398786.2:c.-6+7214T>C (C10orf105) | ENSP00000381766.3:n.-6+7214T>C | |
| ENST00000398792.3:n.317A>G (CDH23) | ||
| ENST00000398809.8:c.3622A>G (CDH23) | ENSP00000381789.5:p.Thr1208Ala | |
| ENST00000616684.4:c.3625A>G (CDH23) | ENSP00000482036.2:p.Thr1209Ala | |
| ENST00000622827.4:c.3625A>G (CDH23) | ENSP00000483211.1:p.Thr1209Ala | |
| NM_001168390.1:c.-6+7214T>C (C10orf105) | NP_001161862.1:n.-6+7214T>C | |
| NM_001171930.1:c.3625A>G (CDH23) | NP_001165401.1:p.Thr1209Ala | |
| NM_022124.5:c.3625A>G (CDH23) | NP_071407.4:p.Thr1209Ala | |
| XM_006717940.2:c.3820A>G (CDH23) | XP_006718003.1:p.Thr1274Ala | |
| XM_006717942.2:c.3754A>G (CDH23) | XP_006718005.1:p.Thr1252Ala | |
| XM_011540039.1:c.3820A>G (CDH23) | XP_011538341.1:p.Thr1274Ala | |
| XM_011540040.1:c.3814A>G (CDH23) | XP_011538342.1:p.Thr1272Ala | |
| XM_011540041.1:c.3760A>G (CDH23) | XP_011538343.1:p.Thr1254Ala | |
| XM_011540042.1:c.3820A>G (CDH23) | XP_011538344.1:p.Thr1274Ala | |
| XM_011540043.1:c.3820A>G (CDH23) | XP_011538345.1:p.Thr1274Ala | |
| XM_011540044.1:c.3685A>G (CDH23) | XP_011538346.1:p.Thr1229Ala | |
| XM_011540045.1:c.3820A>G (CDH23) | XP_011538347.1:p.Thr1274Ala | |
| XM_011540046.1:c.3280A>G (CDH23) | XP_011538348.1:p.Thr1094Ala | |
| XM_011540047.1:c.2638A>G (CDH23) | XP_011538349.1:p.Thr880Ala | |
| XM_011540048.1:c.3820A>G (CDH23) | XP_011538350.1:p.Thr1274Ala | |
| XM_011540049.1:c.3820A>G (CDH23) | XP_011538351.1:p.Thr1274Ala | |
| XM_011540050.1:c.3820A>G (CDH23) | XP_011538352.1:p.Thr1274Ala | |
| XM_011540051.1:c.3820A>G (CDH23) | XP_011538353.1:p.Thr1274Ala | |
| XM_011540052.1:c.148A>G (CDH23) | XP_011538354.1:p.Thr50Ala | |
| XM_011540053.1:c.3820A>G (CDH23) | XP_011538355.1:p.Thr1274Ala | |
| XR_945796.1:n.4063A>G (CDH23) | ||
| NM_001168390.2:c.-6+7214T>C (C10orf105) | NP_001161862.1:n.-6+7214T>C | |
| NM_001171930.2:c.3625A>G (CDH23) | NP_001165401.1:p.Thr1209Ala | |
| NM_022124.6:c.3625A>G (CDH23) MANE Select | NP_071407.4:p.Thr1209Ala |