gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.26865728C>G , CM000680.2:g.26865728C>G | GRCh38 |
| NC_000018.9:g.24445692C>G , CM000680.1:g.24445692C>G | GRCh37 |
| NC_000018.8:g.22699690C>G | NCBI36 |
| NG_029560.1:g.5025G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000672188.1:c.-39G>C (AQP4) | ENSP00000500720.1:n.-39G>C | |
| ENST00000383168.8:c.-39G>C (AQP4) | ENSP00000372654.4:n.-39G>C | |
| ENST00000383170.3:c.-39G>C (AQP4) | ENSP00000372656.3:n.-39G>C | |
| NM_001650.4:c.-39G>C (AQP4) | NP_001641.1:n.-39G>C | |
| NR_026908.1:n.53+368C>G (AQP4-AS1) | ||
| NM_001317384.2:c.-39G>C (AQP4) | NP_001304313.1:n.-39G>C | |
| NM_001317387.2:c.-39G>C (AQP4) | NP_001304316.1:n.-39G>C | |
| NM_001364286.1:c.-105G>C (AQP4) | NP_001351215.1:n.-105G>C | |
| NM_001364287.1:c.-105G>C (AQP4) | NP_001351216.1:n.-105G>C | |
| NM_001650.6:c.-39G>C (AQP4) | NP_001641.1:n.-39G>C |