Linked Data
ClinVar Variation Id:
1057285
ClinVar RCV Id:
RCV001366235
dbSNP Id:
rs2128940575
gnomAD v4:
7-128858059-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128858059T>G , CM000669.2:g.128858059T>G | GRCh38 |
| NC_000007.13:g.128498113T>G , CM000669.1:g.128498113T>G | GRCh37 |
| NC_000007.12:g.128285349T>G | NCBI36 |
| NG_011807.1:g.32631T>G , LRG_870:g.32631T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.7832T>G (FLNC) MANE Select | ENSP00000327145.8:p.Val2611Gly | |
| ENST00000325888.12:c.7832T>G (FLNC) | ENSP00000327145.8:p.Val2611Gly | |
| ENST00000346177.6:c.7733T>G (FLNC) | ENSP00000344002.6:p.Val2578Gly | |
| NM_001127487.1:c.7733T>G (FLNC) | NP_001120959.1:p.Val2578Gly | |
| NM_001458.4:c.7832T>G , LRG_870t1:c.7832T>G (FLNC) | NP_001449.3:p.Val2611Gly | |
| NR_149055.1:n.102+4466A>C (FLNC-AS1) | ||
| NM_001127487.2:c.7733T>G (FLNC) | NP_001120959.1:p.Val2578Gly | |
| NM_001458.5:c.7832T>G (FLNC) MANE Select | NP_001449.3:p.Val2611Gly |