Linked Data
ClinVar Variation Id:
1620457
dbSNP Id:
rs2124042461
gnomAD v4:
1-47416630-T-C
MyVariant Identifiers:
chr1:g.47882302T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.47416630T>C , CM000663.2:g.47416630T>C | GRCh38 |
| NC_000001.10:g.47882302T>C , CM000663.1:g.47882302T>C | GRCh37 |
| NC_000001.9:g.47654889T>C | NCBI36 |
| NG_016192.1:g.5559T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335071.4:c.315T>C (FOXE3) MANE Select | ENSP00000334472.2:p.Phe105= | |
| ENST00000335071.3:c.315T>C (FOXE3) | ENSP00000334472.2:p.Phe105= | |
| NM_012186.2:c.315T>C (FOXE3) | NP_036318.1:p.Phe105= | |
| NR_126355.1:n.29-6729A>G (LINC01389) | ||
| NM_012186.3:c.315T>C (FOXE3) MANE Select | NP_036318.1:p.Phe105= |