Linked Data
ClinVar Variation Id:
860247
ClinVar RCV Id:
RCV001066522
dbSNP Id:
rs28437296
gnomAD v4:
7-128858466-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128858466T>G , CM000669.2:g.128858466T>G | GRCh38 |
| NC_000007.13:g.128498520T>G , CM000669.1:g.128498520T>G | GRCh37 |
| NC_000007.12:g.128285756T>G | NCBI36 |
| NG_011807.1:g.33038T>G , LRG_870:g.33038T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.8121T>G (FLNC) MANE Select | ENSP00000327145.8:p.Ile2707Met | |
| ENST00000325888.12:c.8121T>G (FLNC) | ENSP00000327145.8:p.Ile2707Met | |
| ENST00000346177.6:c.8022T>G (FLNC) | ENSP00000344002.6:p.Ile2674Met | |
| NM_001127487.1:c.8022T>G (FLNC) | NP_001120959.1:p.Ile2674Met | |
| NM_001458.4:c.8121T>G , LRG_870t1:c.8121T>G (FLNC) | NP_001449.3:p.Ile2707Met | |
| NR_149055.1:n.102+4059A>C (FLNC-AS1) | ||
| NM_001127487.2:c.8022T>G (FLNC) | NP_001120959.1:p.Ile2674Met | |
| NM_001458.5:c.8121T>G (FLNC) MANE Select | NP_001449.3:p.Ile2707Met |