Linked Data
ClinVar Variation Id:
1535225
ClinVar RCV Id:
RCV002077672
dbSNP Id:
rs2128940407
gnomAD v4:
7-128857326-C-A
MyVariant Identifiers:
chr7:g.128497380C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128857326C>A , CM000669.2:g.128857326C>A | GRCh38 |
| NC_000007.13:g.128497380C>A , CM000669.1:g.128497380C>A | GRCh37 |
| NC_000007.12:g.128284616C>A | NCBI36 |
| NG_011807.1:g.31898C>A , LRG_870:g.31898C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.7770C>A (FLNC) MANE Select | ENSP00000327145.8:p.Ala2590= | |
| ENST00000325888.12:c.7770C>A (FLNC) | ENSP00000327145.8:p.Ala2590= | |
| ENST00000346177.6:c.7671C>A (FLNC) | ENSP00000344002.6:p.Ala2557= | |
| NM_001127487.1:c.7671C>A (FLNC) | NP_001120959.1:p.Ala2557= | |
| NM_001458.4:c.7770C>A , LRG_870t1:c.7770C>A (FLNC) | NP_001449.3:p.Ala2590= | |
| NR_149055.1:n.103-3929G>T (FLNC-AS1) | ||
| NM_001127487.2:c.7671C>A (FLNC) | NP_001120959.1:p.Ala2557= | |
| NM_001458.5:c.7770C>A (FLNC) MANE Select | NP_001449.3:p.Ala2590= |