Revel Score:
ENST00000436072 (MANE Select)
0.050
ENST00000446575
0.050
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.37907562G>A , CM000669.2:g.37907562G>A | GRCh38 |
| NC_000007.13:g.37947164G>A , CM000669.1:g.37947164G>A | GRCh37 |
| NC_000007.12:g.37913689G>A | NCBI36 |
| NG_052980.1:g.14362C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436072.7:c.958C>T (SFRP4) MANE Select | ENSP00000410715.2:p.Pro320Ser | |
| ENST00000436072.6:c.958C>T (SFRP4) | ENSP00000410715.2:p.Pro320Ser | |
| ENST00000476620.1:c.-37-41278G>A (EPDR1) | ENSP00000425858.1:n.-37-41278G>A | |
| ENST00000478975.1:n.326C>T (SFRP4) | ||
| NM_003014.3:c.958C>T (SFRP4) | NP_003005.2:p.Pro320Ser | |
| NM_003014.4:c.958C>T (SFRP4) MANE Select | NP_003005.2:p.Pro320Ser |