Linked Data
ClinVar Variation Id:
129098
dbSNP Id:
rs201149834
ExAC:
7:128497400 A / G
gnomAD v2:
7-128497400-A-G
gnomAD v3:
7-128857346-A-G
gnomAD v4:
7-128857346-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128857346A>G , CM000669.2:g.128857346A>G | GRCh38 |
| NC_000007.13:g.128497400A>G , CM000669.1:g.128497400A>G | GRCh37 |
| NC_000007.12:g.128284636A>G | NCBI36 |
| NG_011807.1:g.31918A>G , LRG_870:g.31918A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000325888.13:c.7780+10A>G (FLNC) MANE Select | ENSP00000327145.8:n.7780+10A>G | |
| ENST00000325888.12:c.7780+10A>G (FLNC) | ENSP00000327145.8:n.7780+10A>G | |
| ENST00000346177.6:c.7681+10A>G (FLNC) | ENSP00000344002.6:n.7681+10A>G | |
| NM_001127487.1:c.7681+10A>G (FLNC) | NP_001120959.1:n.7681+10A>G | |
| NM_001458.4:c.7780+10A>G , LRG_870t1:c.7780+10A>G (FLNC) | NP_001449.3:n.7780+10A>G | |
| NR_149055.1:n.103-3949T>C (FLNC-AS1) | ||
| NM_001127487.2:c.7681+10A>G (FLNC) | NP_001120959.1:n.7681+10A>G | |
| NM_001458.5:c.7780+10A>G (FLNC) MANE Select | NP_001449.3:n.7780+10A>G |