Linked Data
ClinVar Variation Id:
641761
dbSNP Id:
rs1292665355
gnomAD v2:
7-128498488-A-G
gnomAD v4:
7-128858434-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128858434A>G , CM000669.2:g.128858434A>G | GRCh38 |
| NC_000007.13:g.128498488A>G , CM000669.1:g.128498488A>G | GRCh37 |
| NC_000007.12:g.128285724A>G | NCBI36 |
| NG_011807.1:g.33006A>G , LRG_870:g.33006A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.8089A>G (FLNC) MANE Select | ENSP00000327145.8:p.Thr2697Ala | |
| ENST00000325888.12:c.8089A>G (FLNC) | ENSP00000327145.8:p.Thr2697Ala | |
| ENST00000346177.6:c.7990A>G (FLNC) | ENSP00000344002.6:p.Thr2664Ala | |
| NM_001127487.1:c.7990A>G (FLNC) | NP_001120959.1:p.Thr2664Ala | |
| NM_001458.4:c.8089A>G , LRG_870t1:c.8089A>G (FLNC) | NP_001449.3:p.Thr2697Ala | |
| NR_149055.1:n.102+4091T>C (FLNC-AS1) | ||
| NM_001127487.2:c.7990A>G (FLNC) | NP_001120959.1:p.Thr2664Ala | |
| NM_001458.5:c.8089A>G (FLNC) MANE Select | NP_001449.3:p.Thr2697Ala |