Linked Data
ClinVar Variation Id:
2933041
ClinVar RCV Id:
RCV003790159
dbSNP Id:
rs2124042348
gnomAD v3:
1-47416611-G-A
gnomAD v4:
1-47416611-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.47416611G>A , CM000663.2:g.47416611G>A | GRCh38 |
| NC_000001.10:g.47882283G>A , CM000663.1:g.47882283G>A | GRCh37 |
| NC_000001.9:g.47654870G>A | NCBI36 |
| NG_016192.1:g.5540G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335071.4:c.296G>A (FOXE3) MANE Select | ENSP00000334472.2:p.Arg99His | |
| ENST00000335071.3:c.296G>A (FOXE3) | ENSP00000334472.2:p.Arg99His | |
| NM_012186.2:c.296G>A (FOXE3) | NP_036318.1:p.Arg99His | |
| NR_126355.1:n.29-6710C>T (LINC01389) | ||
| NM_012186.3:c.296G>A (FOXE3) MANE Select | NP_036318.1:p.Arg99His |