Linked Data
ClinVar Variation Id:
859047
dbSNP Id:
rs369110441
ExAC:
7:128498458 A / G
gnomAD v2:
7-128498458-A-G
gnomAD v3:
7-128858404-A-G
gnomAD v4:
7-128858404-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128858404A>G , CM000669.2:g.128858404A>G | GRCh38 |
| NC_000007.13:g.128498458A>G , CM000669.1:g.128498458A>G | GRCh37 |
| NC_000007.12:g.128285694A>G | NCBI36 |
| NG_011807.1:g.32976A>G , LRG_870:g.32976A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.8059A>G (FLNC) MANE Select | ENSP00000327145.8:p.Met2687Val | |
| ENST00000325888.12:c.8059A>G (FLNC) | ENSP00000327145.8:p.Met2687Val | |
| ENST00000346177.6:c.7960A>G (FLNC) | ENSP00000344002.6:p.Met2654Val | |
| NM_001127487.1:c.7960A>G (FLNC) | NP_001120959.1:p.Met2654Val | |
| NM_001458.4:c.8059A>G , LRG_870t1:c.8059A>G (FLNC) | NP_001449.3:p.Met2687Val | |
| NR_149055.1:n.102+4121T>C (FLNC-AS1) | ||
| NM_001127487.2:c.7960A>G (FLNC) | NP_001120959.1:p.Met2654Val | |
| NM_001458.5:c.8059A>G (FLNC) MANE Select | NP_001449.3:p.Met2687Val |