Linked Data
ClinVar Variation Id:
2141485
ClinVar RCV Id:
RCV003060378
dbSNP Id:
rs543718876
ExAC:
7:128492871 A / T
gnomAD v2:
7-128492871-A-T
gnomAD v3:
7-128852817-A-T
gnomAD v4:
7-128852817-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128852817A>T , CM000669.2:g.128852817A>T | GRCh38 |
| NC_000007.13:g.128492871A>T , CM000669.1:g.128492871A>T | GRCh37 |
| NC_000007.12:g.128280107A>T | NCBI36 |
| NG_011807.1:g.27389A>T , LRG_870:g.27389A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.6005-11A>T (FLNC) MANE Select | ENSP00000327145.8:n.6005-11A>T | |
| ENST00000325888.12:c.6005-11A>T (FLNC) | ENSP00000327145.8:n.6005-11A>T | |
| ENST00000346177.6:c.5906-11A>T (FLNC) | ENSP00000344002.6:n.5906-11A>T | |
| NM_001127487.1:c.5906-11A>T (FLNC) | NP_001120959.1:n.5906-11A>T | |
| NM_001458.4:c.6005-11A>T , LRG_870t1:c.6005-11A>T (FLNC) | NP_001449.3:n.6005-11A>T | |
| NR_149055.1:n.215+468T>A (FLNC-AS1) | ||
| NM_001127487.2:c.5906-11A>T (FLNC) | NP_001120959.1:n.5906-11A>T | |
| NM_001458.5:c.6005-11A>T (FLNC) MANE Select | NP_001449.3:n.6005-11A>T |