Linked Data
ClinVar Variation Id:
2167747
ClinVar RCV Id:
RCV003092201
dbSNP Id:
rs529191251
ExAC:
10:73472554 G / T
gnomAD v2:
10-73472554-G-T
gnomAD v3:
10-71712797-G-T
gnomAD v4:
10-71712797-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71712797G>T , CM000672.2:g.71712797G>T | GRCh38 |
| NC_000010.10:g.73472554G>T , CM000672.1:g.73472554G>T | GRCh37 |
| NC_000010.9:g.73142560G>T | NCBI36 |
| NG_008835.1:g.320851G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.3353G>T (CDH23) MANE Select | ENSP00000224721.9:p.Gly1118Val | |
| ENST00000398809.9:c.3353G>T (CDH23) | ENSP00000381789.5:p.Gly1118Val | |
| ENST00000441508.4:c.*3139C>A (C10orf105) MANE Select | ENSP00000403151.2:n.*3139C>A | |
| ENST00000442677.4:c.3353G>T (CDH23) | ENSP00000388894.3:p.Gly1118Val | |
| ENST00000466757.8:c.2784G>T (CDH23) | ||
| ENST00000224721.10:c.3368G>T (CDH23) | ENSP00000224721.8:p.Gly1123Val | |
| ENST00000398786.2:c.*3139C>A (C10orf105) | ENSP00000381766.3:n.*3139C>A | |
| ENST00000398792.3:n.194G>T (CDH23) | ||
| ENST00000398809.8:c.3353G>T (CDH23) | ENSP00000381789.5:p.Gly1118Val | |
| ENST00000441508.2:c.*3139C>A (C10orf105) | ENSP00000403151.2:n.*3139C>A | |
| ENST00000442677.3:c.2128G>T (CDH23) | ||
| ENST00000466757.7:c.2784G>T (CDH23) | ||
| ENST00000616684.4:c.3353G>T (CDH23) | ENSP00000482036.2:p.Gly1118Val | |
| ENST00000622827.4:c.3353G>T (CDH23) | ENSP00000483211.1:p.Gly1118Val | |
| NM_001164375.2:c.*3139C>A (C10orf105) | NP_001157847.1:n.*3139C>A | |
| NM_001168390.1:c.*3139C>A (C10orf105) | NP_001161862.1:n.*3139C>A | |
| NM_001171930.1:c.3353G>T (CDH23) | NP_001165401.1:p.Gly1118Val | |
| NM_022124.5:c.3353G>T (CDH23) | NP_071407.4:p.Gly1118Val | |
| XM_006717940.2:c.3548G>T (CDH23) | XP_006718003.1:p.Gly1183Val | |
| XM_006717942.2:c.3482G>T (CDH23) | XP_006718005.1:p.Gly1161Val | |
| XM_011540039.1:c.3548G>T (CDH23) | XP_011538341.1:p.Gly1183Val | |
| XM_011540040.1:c.3542G>T (CDH23) | XP_011538342.1:p.Gly1181Val | |
| XM_011540041.1:c.3488G>T (CDH23) | XP_011538343.1:p.Gly1163Val | |
| XM_011540042.1:c.3548G>T (CDH23) | XP_011538344.1:p.Gly1183Val | |
| XM_011540043.1:c.3548G>T (CDH23) | XP_011538345.1:p.Gly1183Val | |
| XM_011540044.1:c.3413G>T (CDH23) | XP_011538346.1:p.Gly1138Val | |
| XM_011540045.1:c.3548G>T (CDH23) | XP_011538347.1:p.Gly1183Val | |
| XM_011540046.1:c.3008G>T (CDH23) | XP_011538348.1:p.Gly1003Val | |
| XM_011540047.1:c.2366G>T (CDH23) | XP_011538349.1:p.Gly789Val | |
| XM_011540048.1:c.3548G>T (CDH23) | XP_011538350.1:p.Gly1183Val | |
| XM_011540049.1:c.3548G>T (CDH23) | XP_011538351.1:p.Gly1183Val | |
| XM_011540050.1:c.3548G>T (CDH23) | XP_011538352.1:p.Gly1183Val | |
| XM_011540051.1:c.3548G>T (CDH23) | XP_011538353.1:p.Gly1183Val | |
| XM_011540053.1:c.3548G>T (CDH23) | XP_011538355.1:p.Gly1183Val | |
| XR_945796.1:n.3791G>T (CDH23) | ||
| XM_011539808.2:c.*3139C>A (C10orf105) | XP_011538110.1:n.*3139C>A | |
| XM_011539809.2:c.*3139C>A (C10orf105) | XP_011538111.1:n.*3139C>A | |
| NM_001164375.3:c.*3139C>A (C10orf105) MANE Select | NP_001157847.1:n.*3139C>A | |
| NM_001168390.2:c.*3139C>A (C10orf105) | NP_001161862.1:n.*3139C>A | |
| NM_001171930.2:c.3353G>T (CDH23) | NP_001165401.1:p.Gly1118Val | |
| NM_022124.6:c.3353G>T (CDH23) MANE Select | NP_071407.4:p.Gly1118Val |