Linked Data
ClinVar Variation Id:
472170
ClinVar RCV Id:
RCV002384214
dbSNP Id:
rs367793265
ExAC:
7:128496794 C / T
gnomAD v2:
7-128496794-C-T
gnomAD v3:
7-128856740-C-T
gnomAD v4:
7-128856740-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128856740C>T , CM000669.2:g.128856740C>T | GRCh38 |
| NC_000007.13:g.128496794C>T , CM000669.1:g.128496794C>T | GRCh37 |
| NC_000007.12:g.128284030C>T | NCBI36 |
| NG_011807.1:g.31312C>T , LRG_870:g.31312C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000325888.13:c.7385-5C>T (FLNC) MANE Select | ENSP00000327145.8:n.7385-5C>T | |
| ENST00000325888.12:c.7385-5C>T (FLNC) | ENSP00000327145.8:n.7385-5C>T | |
| ENST00000346177.6:c.7286-5C>T (FLNC) | ENSP00000344002.6:n.7286-5C>T | |
| NM_001127487.1:c.7286-5C>T (FLNC) | NP_001120959.1:n.7286-5C>T | |
| NM_001458.4:c.7385-5C>T , LRG_870t1:c.7385-5C>T (FLNC) | NP_001449.3:n.7385-5C>T | |
| NR_149055.1:n.103-3343G>A (FLNC-AS1) | ||
| NM_001127487.2:c.7286-5C>T (FLNC) | NP_001120959.1:n.7286-5C>T | |
| NM_001458.5:c.7385-5C>T (FLNC) MANE Select | NP_001449.3:n.7385-5C>T |