Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.86567752G>A , CM000678.2:g.86567752G>A | GRCh38 |
| NC_000016.9:g.86601358G>A , CM000678.1:g.86601358G>A | GRCh37 |
| NC_000016.8:g.85158859G>A | NCBI36 |
| NG_012025.1:g.5502G>A | |
| NG_012025.2:g.5924G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649859.1:c.417G>A (FOXC2) MANE Select | ENSP00000497759.1:p.Lys139= | |
| ENST00000320354.5:c.417G>A (FOXC2) | ENSP00000326371.4:p.Lys139= | |
| NM_005251.2:c.417G>A (FOXC2) | NP_005242.1:p.Lys139= | |
| NR_125795.1:n.10C>T (FOXC2-AS1) | ||
| NM_005251.3:c.417G>A (FOXC2) MANE Select | NP_005242.1:p.Lys139= |