Linked Data
ClinVar Variation Id:
472140
ClinVar RCV Id:
RCV002367919
dbSNP Id:
rs1554401281
gnomAD v4:
7-128854154-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128854154T>C , CM000669.2:g.128854154T>C | GRCh38 |
| NC_000007.13:g.128494208T>C , CM000669.1:g.128494208T>C | GRCh37 |
| NC_000007.12:g.128281444T>C | NCBI36 |
| NG_011807.1:g.28726T>C , LRG_870:g.28726T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000325888.13:c.6665T>C (FLNC) MANE Select | ENSP00000327145.8:p.Phe2222Ser | |
| ENST00000325888.12:c.6665T>C (FLNC) | ENSP00000327145.8:p.Phe2222Ser | |
| ENST00000346177.6:c.6566T>C (FLNC) | ENSP00000344002.6:p.Phe2189Ser | |
| NM_001127487.1:c.6566T>C (FLNC) | NP_001120959.1:p.Phe2189Ser | |
| NM_001458.4:c.6665T>C , LRG_870t1:c.6665T>C (FLNC) | NP_001449.3:p.Phe2222Ser | |
| NR_149055.1:n.103-757A>G (FLNC-AS1) | ||
| NM_001127487.2:c.6566T>C (FLNC) | NP_001120959.1:p.Phe2189Ser | |
| NM_001458.5:c.6665T>C (FLNC) MANE Select | NP_001449.3:p.Phe2222Ser |