Linked Data
ClinVar Variation Id:
297834
dbSNP Id:
rs527962872
gnomAD v2:
1-6052355-T-A
gnomAD v3:
1-5992295-T-A
gnomAD v4:
1-5992295-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.5992295T>A , CM000663.2:g.5992295T>A | GRCh38 |
| NC_000001.10:g.6052355T>A , CM000663.1:g.6052355T>A | GRCh37 |
| NC_000001.9:g.5974942T>A | NCBI36 |
| NG_011724.2:g.5177A>T | |
| NG_047091.1:g.4998T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378097.6:c.-546T>A (KCNAB2) | ENSP00000367337.1:n.-546T>A | |
| ENST00000378111.6:c.-53+739T>A (KCNAB2) | ENSP00000367351.2:n.-53+739T>A | |
| ENST00000378156.9:c.-90A>T (NPHP4) MANE Select | ENSP00000367398.4:n.-90A>T | |
| ENST00000655548.1:c.-53+1252T>A (KCNAB2) | ENSP00000499615.1:n.-53+1252T>A | |
| ENST00000378111.5:c.-53+739T>A (KCNAB2) | ENSP00000367351.1:n.-53+739T>A | |
| ENST00000378156.8:c.-90A>T (NPHP4) | ENSP00000367398.4:n.-90A>T | |
| ENST00000378169.7:c.-90A>T (NPHP4) | ENSP00000367411.3:n.-90A>T | |
| ENST00000478423.6:n.130A>T (NPHP4) | ||
| ENST00000489180.6:c.-90A>T (NPHP4) | ENSP00000423747.1:n.-90A>T | |
| ENST00000622020.4:c.-90A>T (NPHP4) | ENSP00000481831.2:n.-90A>T | |
| NM_001291593.1:c.-1319A>T (NPHP4) | NP_001278522.1:n.-1319A>T | |
| NM_001291594.1:c.-1139A>T (NPHP4) | NP_001278523.1:n.-1139A>T | |
| NM_015102.4:c.-90A>T (NPHP4) | NP_055917.1:n.-90A>T | |
| NR_111987.1:n.179A>T (NPHP4) | ||
| XM_006710563.2:c.-77A>T (NPHP4) | XP_006710626.1:n.-77A>T | |
| XM_006710563.3:c.-77A>T (NPHP4) | XP_006710626.1:n.-77A>T | |
| XM_017000999.1:c.-523A>T (NPHP4) | XP_016856488.1:n.-523A>T | |
| NM_015102.5:c.-90A>T (NPHP4) MANE Select | NP_055917.1:n.-90A>T | |
| NM_001291593.2:c.-1319A>T (NPHP4) | NP_001278522.1:n.-1319A>T | |
| NM_001291594.2:c.-1139A>T (NPHP4) | NP_001278523.1:n.-1139A>T | |
| NR_111987.2:n.131A>T (NPHP4) |