COSMIC:
COSM3762656 (not active)
Revel Score:
ENST00000436072 (MANE Select)
0.086
ENST00000446575
0.086
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34305601 (AFR)
Genomes Max Group AF
0.34246311 (AFR)
Exomes Max Group AF
0.34053381 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.37907501C>T , CM000669.2:g.37907501C>T | GRCh38 |
| NC_000007.13:g.37947103C>T , CM000669.1:g.37947103C>T | GRCh37 |
| NC_000007.12:g.37913628C>T | NCBI36 |
| NG_052980.1:g.14423G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436072.7:c.1019G>A (SFRP4) MANE Select | ENSP00000410715.2:p.Arg340Lys | |
| ENST00000436072.6:c.1019G>A (SFRP4) | ENSP00000410715.2:p.Arg340Lys | |
| ENST00000476620.1:c.-37-41339C>T (EPDR1) | ENSP00000425858.1:n.-37-41339C>T | |
| ENST00000478975.1:n.387G>A (SFRP4) | ||
| NM_003014.3:c.1019G>A (SFRP4) | NP_003005.2:p.Arg340Lys | |
| NM_003014.4:c.1019G>A (SFRP4) MANE Select | NP_003005.2:p.Arg340Lys |