Linked Data
ClinVar Variation Id:
7260
ClinVar RCV Id:
RCV000007682
dbSNP Id:
rs121909106
gnomAD v4:
16-86567709-C-T
COSMIC:
COSM5638358
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.86567709C>T , CM000678.2:g.86567709C>T | GRCh38 |
| NC_000016.9:g.86601315C>T , CM000678.1:g.86601315C>T | GRCh37 |
| NC_000016.8:g.85158816C>T | NCBI36 |
| NG_012025.1:g.5459C>T | |
| NG_012025.2:g.5881C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649859.1:c.374C>T (FOXC2) MANE Select | ENSP00000497759.1:p.Ser125Leu | |
| ENST00000320354.5:c.374C>T (FOXC2) | ENSP00000326371.4:p.Ser125Leu | |
| NM_005251.2:c.374C>T (FOXC2) | NP_005242.1:p.Ser125Leu | |
| NR_125795.1:n.53G>A (FOXC2-AS1) | ||
| NM_005251.3:c.374C>T (FOXC2) MANE Select | NP_005242.1:p.Ser125Leu |