Linked Data
ClinVar Variation Id:
242996
ClinVar RCV Id:
RCV000234991
dbSNP Id:
rs755007671
ExAC:
7:37951818 G / A
gnomAD v4:
7-37912216-G-A
COSMIC:
COSM3638533
PubMed:
PMID:27355534
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.37912216G>A , CM000669.2:g.37912216G>A | GRCh38 |
| NC_000007.13:g.37951818G>A , CM000669.1:g.37951818G>A | GRCh37 |
| NC_000007.12:g.37918343G>A | NCBI36 |
| NG_052980.1:g.9708C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436072.7:c.694C>T (SFRP4) MANE Select | ENSP00000410715.2:p.Arg232Ter | |
| ENST00000436072.6:c.694C>T (SFRP4) | ENSP00000410715.2:p.Arg232Ter | |
| ENST00000447200.2:c.292C>T (SFRP4) | ENSP00000402262.2:p.Arg98Ter | |
| ENST00000476620.1:c.-37-36624G>A (EPDR1) | ENSP00000425858.1:n.-37-36624G>A | |
| NM_003014.3:c.694C>T (SFRP4) | NP_003005.2:p.Arg232Ter | |
| NM_003014.4:c.694C>T (SFRP4) MANE Select | NP_003005.2:p.Arg232Ter |