Linked Data
ClinVar Variation Id:
539412
ClinVar RCV Id:
RCV002343338
dbSNP Id:
rs891651799
gnomAD v2:
7-128491526-G-A
gnomAD v3:
7-128851472-G-A
gnomAD v4:
7-128851472-G-A
COSMIC:
COSM3411572
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128851472G>A , CM000669.2:g.128851472G>A | GRCh38 |
| NC_000007.13:g.128491526G>A , CM000669.1:g.128491526G>A | GRCh37 |
| NC_000007.12:g.128278762G>A | NCBI36 |
| NG_011807.1:g.26044G>A , LRG_870:g.26044G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000325888.13:c.5686G>A (FLNC) MANE Select | ENSP00000327145.8:p.Val1896Met | |
| ENST00000325888.12:c.5686G>A (FLNC) | ENSP00000327145.8:p.Val1896Met | |
| ENST00000346177.6:c.5587G>A (FLNC) | ENSP00000344002.6:p.Val1863Met | |
| NM_001127487.1:c.5587G>A (FLNC) | NP_001120959.1:p.Val1863Met | |
| NM_001458.4:c.5686G>A , LRG_870t1:c.5686G>A (FLNC) | NP_001449.3:p.Val1896Met | |
| NR_149055.1:n.244C>T (FLNC-AS1) | ||
| NM_001127487.2:c.5587G>A (FLNC) | NP_001120959.1:p.Val1863Met | |
| NM_001458.5:c.5686G>A (FLNC) MANE Select | NP_001449.3:p.Val1896Met |