Linked Data
ClinVar Variation Id:
447346
dbSNP Id:
rs760857362
ExAC:
7:128498203 G / A
gnomAD v2:
7-128498203-G-A
gnomAD v4:
7-128858149-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128858149G>A , CM000669.2:g.128858149G>A | GRCh38 |
| NC_000007.13:g.128498203G>A , CM000669.1:g.128498203G>A | GRCh37 |
| NC_000007.12:g.128285439G>A | NCBI36 |
| NG_011807.1:g.32721G>A , LRG_870:g.32721G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.7922G>A (FLNC) MANE Select | ENSP00000327145.8:p.Arg2641Gln | |
| ENST00000325888.12:c.7922G>A (FLNC) | ENSP00000327145.8:p.Arg2641Gln | |
| ENST00000346177.6:c.7823G>A (FLNC) | ENSP00000344002.6:p.Arg2608Gln | |
| NM_001127487.1:c.7823G>A (FLNC) | NP_001120959.1:p.Arg2608Gln | |
| NM_001458.4:c.7922G>A , LRG_870t1:c.7922G>A (FLNC) | NP_001449.3:p.Arg2641Gln | |
| NR_149055.1:n.102+4376C>T (FLNC-AS1) | ||
| NM_001127487.2:c.7823G>A (FLNC) | NP_001120959.1:p.Arg2608Gln | |
| NM_001458.5:c.7922G>A (FLNC) MANE Select | NP_001449.3:p.Arg2641Gln |