gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1475776 (NFE)
Genomes Max Group AF
0.14564374 (NFE)
Exomes Max Group AF
0.14756631 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8373832G>A , CM000681.2:g.8373832G>A | GRCh38 |
| NC_000019.9:g.8438716G>A , CM000681.1:g.8438716G>A | GRCh37 |
| NC_000019.8:g.8344716G>A | NCBI36 |
| NG_012169.1:g.14706G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301455.7:c.1167G>A (ANGPTL4) MANE Select | ENSP00000301455.1:p.Pro389= | |
| ENST00000301455.6:c.1167G>A (ANGPTL4) | ENSP00000301455.1:p.Pro389= | |
| ENST00000351593.9:c.-88+71174C>T (ELAVL1) | ENSP00000264073.6:n.-88+71174C>T | |
| ENST00000393962.6:c.1053G>A (ANGPTL4) | ENSP00000377534.1:p.Pro351= | |
| ENST00000593998.5:c.1167G>A (ANGPTL4) | ENSP00000472551.1:p.Pro389= | |
| ENST00000594875.1:c.354-361G>A (ANGPTL4) | ||
| ENST00000595079.5:c.*710G>A (ANGPTL4) | ENSP00000473025.1:n.*710G>A | |
| NM_001039667.2:c.1053G>A (ANGPTL4) | NP_001034756.1:p.Pro351= | |
| NM_139314.2:c.1167G>A (ANGPTL4) | NP_647475.1:p.Pro389= | |
| NR_104213.1:n.625-361G>A (ANGPTL4) | ||
| XM_005272484.2:c.1221G>A (ANGPTL4) | XP_005272541.1:p.Pro407= | |
| XM_005272485.2:c.1107G>A (ANGPTL4) | XP_005272542.1:p.Pro369= | |
| XM_005272484.3:c.1221G>A (ANGPTL4) | XP_005272541.1:p.Pro407= | |
| XM_005272485.3:c.1107G>A (ANGPTL4) | XP_005272542.1:p.Pro369= | |
| NM_139314.3:c.1167G>A (ANGPTL4) MANE Select | NP_647475.1:p.Pro389= | |
| NM_001039667.3:c.1053G>A (ANGPTL4) | NP_001034756.1:p.Pro351= | |
| NR_104213.2:n.597-361G>A (ANGPTL4) |