Linked Data
ClinVar Variation Id:
1119204
ClinVar RCV Id:
RCV001448579
dbSNP Id:
rs1303056091
gnomAD v3:
1-47416486-C-A
gnomAD v4:
1-47416486-C-A
MyVariant Identifiers:
chr1:g.47882158C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.47416486C>A , CM000663.2:g.47416486C>A | GRCh38 |
| NC_000001.10:g.47882158C>A , CM000663.1:g.47882158C>A | GRCh37 |
| NC_000001.9:g.47654745C>A | NCBI36 |
| NG_016192.1:g.5415C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335071.4:c.171C>A (FOXE3) MANE Select | ENSP00000334472.2:p.Pro57= | |
| ENST00000335071.3:c.171C>A (FOXE3) | ENSP00000334472.2:p.Pro57= | |
| NM_012186.2:c.171C>A (FOXE3) | NP_036318.1:p.Pro57= | |
| NR_126355.1:n.29-6585G>T (LINC01389) | ||
| NM_012186.3:c.171C>A (FOXE3) MANE Select | NP_036318.1:p.Pro57= |