gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3499814 (AFR)
Genomes Max Group AF
0.3499814 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.76140855G>A , CM000679.2:g.76140855G>A | GRCh38 |
| NC_000017.10:g.74136936G>A , CM000679.1:g.74136936G>A | GRCh37 |
| NC_000017.9:g.71648531G>A | NCBI36 |
| NG_013345.1:g.5445C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322957.7:c.-170+259C>T (FOXJ1) MANE Select | ENSP00000323880.4:n.-170+259C>T | |
| ENST00000322957.6:c.-170+259C>T (FOXJ1) | ENSP00000323880.4:n.-170+259C>T | |
| NM_001454.3:c.-170+259C>T (FOXJ1) | NP_001445.2:n.-170+259C>T | |
| NR_040017.1:n.125+175G>A (RNF157-AS1) | ||
| NM_001454.4:c.-170+259C>T (FOXJ1) MANE Select | NP_001445.2:n.-170+259C>T |