Revel Score:
ENST00000525144 (MANE Select)
0.031
ENST00000529097
0.031
ENST00000416561
0.031
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005798 (MID)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00006092 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126424726C>T , CM000673.2:g.126424726C>T | GRCh38 |
| NC_000011.9:g.126294621C>T , CM000673.1:g.126294621C>T | GRCh37 |
| NC_000011.8:g.125799831C>T | NCBI36 |
| NG_012971.1:g.581146G>A | |
| NG_053025.1:g.74082C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525144.7:c.2191G>A (KIRREL3) MANE Select | ENSP00000435466.2:p.Val731Ile | |
| ENST00000416561.6:c.2068G>A (KIRREL3) | ENSP00000408692.3:p.Val690Ile | |
| ENST00000524834.5:n.629+15315C>T (ST3GAL4) | ||
| ENST00000525144.6:c.2191G>A (KIRREL3) | ENSP00000435466.2:p.Val731Ile | |
| ENST00000529097.6:c.2155G>A (KIRREL3) | ENSP00000434081.2:p.Val719Ile | |
| NM_001301097.1:c.2155G>A (KIRREL3) | NP_001288026.1:p.Val719Ile | |
| NM_032531.3:c.2191G>A (KIRREL3) | NP_115920.1:p.Val731Ile | |
| XM_011542959.1:c.771+15315C>T (ST3GAL4) | XP_011541261.1:n.771+15315C>T | |
| XM_011542960.1:c.771+15315C>T (ST3GAL4) | XP_011541262.1:n.771+15315C>T | |
| XM_011542961.1:c.771+15315C>T (ST3GAL4) | XP_011541263.1:n.771+15315C>T | |
| XM_011542962.1:c.771+15315C>T (ST3GAL4) | XP_011541264.1:n.771+15315C>T | |
| XM_011543026.1:c.2284G>A (KIRREL3) | XP_011541328.1:p.Val762Ile | |
| XM_011543027.1:c.2266G>A (KIRREL3) | XP_011541329.1:p.Val756Ile | |
| XM_011543028.1:c.2266G>A (KIRREL3) | XP_011541330.1:p.Val756Ile | |
| XM_011543029.1:c.2266G>A (KIRREL3) | XP_011541331.1:p.Val756Ile | |
| XM_011543030.1:c.2209G>A (KIRREL3) | XP_011541332.1:p.Val737Ile | |
| XM_011543031.1:c.2191G>A (KIRREL3) | XP_011541333.1:p.Val731Ile | |
| XM_011543032.1:c.2173G>A (KIRREL3) | XP_011541334.1:p.Val725Ile | |
| XM_011543033.1:c.2155G>A (KIRREL3) | XP_011541335.1:p.Val719Ile | |
| XM_011543034.1:c.1624G>A (KIRREL3) | XP_011541336.1:p.Val542Ile | |
| XM_011543026.2:c.2284G>A (KIRREL3) | XP_011541328.1:p.Val762Ile | |
| XM_011543027.2:c.2266G>A (KIRREL3) | XP_011541329.1:p.Val756Ile | |
| XM_011543028.2:c.2266G>A (KIRREL3) | XP_011541330.1:p.Val756Ile | |
| XM_011543030.3:c.2209G>A (KIRREL3) | XP_011541332.1:p.Val737Ile | |
| XM_011543031.2:c.2191G>A (KIRREL3) | XP_011541333.1:p.Val731Ile | |
| XM_011543032.3:c.2173G>A (KIRREL3) | XP_011541334.1:p.Val725Ile | |
| XM_017018419.1:c.2230G>A (KIRREL3) | XP_016873908.1:p.Val744Ile | |
| XM_017018420.1:c.2191G>A (KIRREL3) | XP_016873909.1:p.Val731Ile | |
| NM_032531.4:c.2191G>A (KIRREL3) MANE Select | NP_115920.1:p.Val731Ile |