Linked Data
dbSNP Id:
rs755796202
ExAC:
7:128498515 C / T
gnomAD v2:
7-128498515-C-T
gnomAD v4:
7-128858461-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128858461C>T , CM000669.2:g.128858461C>T | GRCh38 |
| NC_000007.13:g.128498515C>T , CM000669.1:g.128498515C>T | GRCh37 |
| NC_000007.12:g.128285751C>T | NCBI36 |
| NG_011807.1:g.33033C>T , LRG_870:g.33033C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.8116C>T (FLNC) MANE Select | ENSP00000327145.8:p.Leu2706Phe | |
| ENST00000325888.12:c.8116C>T (FLNC) | ENSP00000327145.8:p.Leu2706Phe | |
| ENST00000346177.6:c.8017C>T (FLNC) | ENSP00000344002.6:p.Leu2673Phe | |
| NM_001127487.1:c.8017C>T (FLNC) | NP_001120959.1:p.Leu2673Phe | |
| NM_001458.4:c.8116C>T , LRG_870t1:c.8116C>T (FLNC) | NP_001449.3:p.Leu2706Phe | |
| NR_149055.1:n.102+4064G>A (FLNC-AS1) | ||
| NM_001127487.2:c.8017C>T (FLNC) | NP_001120959.1:p.Leu2673Phe | |
| NM_001458.5:c.8116C>T (FLNC) MANE Select | NP_001449.3:p.Leu2706Phe |