Linked Data
ClinVar Variation Id:
652793
ClinVar RCV Id:
RCV000808433
dbSNP Id:
rs772621794
ExAC:
7:128492899 A / G
gnomAD v2:
7-128492899-A-G
gnomAD v3:
7-128852845-A-G
gnomAD v4:
7-128852845-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128852845A>G , CM000669.2:g.128852845A>G | GRCh38 |
| NC_000007.13:g.128492899A>G , CM000669.1:g.128492899A>G | GRCh37 |
| NC_000007.12:g.128280135A>G | NCBI36 |
| NG_011807.1:g.27417A>G , LRG_870:g.27417A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.6022A>G (FLNC) MANE Select | ENSP00000327145.8:p.Lys2008Glu | |
| ENST00000325888.12:c.6022A>G (FLNC) | ENSP00000327145.8:p.Lys2008Glu | |
| ENST00000346177.6:c.5923A>G (FLNC) | ENSP00000344002.6:p.Lys1975Glu | |
| NM_001127487.1:c.5923A>G (FLNC) | NP_001120959.1:p.Lys1975Glu | |
| NM_001458.4:c.6022A>G , LRG_870t1:c.6022A>G (FLNC) | NP_001449.3:p.Lys2008Glu | |
| NR_149055.1:n.215+440T>C (FLNC-AS1) | ||
| NM_001127487.2:c.5923A>G (FLNC) | NP_001120959.1:p.Lys1975Glu | |
| NM_001458.5:c.6022A>G (FLNC) MANE Select | NP_001449.3:p.Lys2008Glu |