Linked Data
ClinVar Variation Id:
4712
ClinVar RCV Id:
RCV000004977
dbSNP Id:
rs116843064
ExAC:
19:8429323 G / A
gnomAD v2:
19-8429323-G-A
gnomAD v3:
19-8364439-G-A
gnomAD v4:
19-8364439-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8364439G>A , CM000681.2:g.8364439G>A | GRCh38 |
| NC_000019.9:g.8429323G>A , CM000681.1:g.8429323G>A | GRCh37 |
| NC_000019.8:g.8335323G>A | NCBI36 |
| NG_012169.1:g.5313G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301455.7:c.118G>A (ANGPTL4) MANE Select | ENSP00000301455.1:p.Glu40Lys | |
| ENST00000301455.6:c.118G>A (ANGPTL4) | ENSP00000301455.1:p.Glu40Lys | |
| ENST00000351593.9:c.-88+80567C>T (ELAVL1) | ENSP00000264073.6:n.-88+80567C>T | |
| ENST00000393962.6:c.118G>A (ANGPTL4) | ENSP00000377534.1:p.Glu40Lys | |
| ENST00000593998.5:c.118G>A (ANGPTL4) | ENSP00000472551.1:p.Glu40Lys | |
| ENST00000594348.1:n.271G>A (ANGPTL4) | ||
| ENST00000594875.1:c.42G>A (ANGPTL4) | ||
| ENST00000595079.5:c.118G>A (ANGPTL4) | ENSP00000473025.1:p.Glu40Lys | |
| ENST00000597137.5:n.64+1077G>A (ANGPTL4) | ||
| ENST00000598255.5:n.274G>A (ANGPTL4) | ||
| ENST00000599192.5:c.118G>A (ANGPTL4) | ENSP00000473090.1:p.Glu40Lys | |
| ENST00000601770.1:c.118G>A (ANGPTL4) | ENSP00000471345.1:p.Glu40Lys | |
| ENST00000601886.1:c.118G>A (ANGPTL4) | ENSP00000470307.1:p.Glu40Lys | |
| NM_001039667.2:c.118G>A (ANGPTL4) | NP_001034756.1:p.Glu40Lys | |
| NM_139314.2:c.118G>A (ANGPTL4) | NP_647475.1:p.Glu40Lys | |
| NR_104213.1:n.313G>A (ANGPTL4) | ||
| XM_005272484.2:c.118G>A (ANGPTL4) | XP_005272541.1:p.Glu40Lys | |
| XM_005272485.2:c.118G>A (ANGPTL4) | XP_005272542.1:p.Glu40Lys | |
| XM_005272484.3:c.118G>A (ANGPTL4) | XP_005272541.1:p.Glu40Lys | |
| XM_005272485.3:c.118G>A (ANGPTL4) | XP_005272542.1:p.Glu40Lys | |
| NM_139314.3:c.118G>A (ANGPTL4) MANE Select | NP_647475.1:p.Glu40Lys | |
| NM_001039667.3:c.118G>A (ANGPTL4) | NP_001034756.1:p.Glu40Lys | |
| NR_104213.2:n.285G>A (ANGPTL4) |