Linked Data
ClinVar Variation Id:
472127
ClinVar RCV Id:
RCV000551363
dbSNP Id:
rs1554400996
gnomAD v4:
7-128852993-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128852993T>C , CM000669.2:g.128852993T>C | GRCh38 |
| NC_000007.13:g.128493047T>C , CM000669.1:g.128493047T>C | GRCh37 |
| NC_000007.12:g.128280283T>C | NCBI36 |
| NG_011807.1:g.27565T>C , LRG_870:g.27565T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.6170T>C (FLNC) MANE Select | ENSP00000327145.8:p.Phe2057Ser | |
| ENST00000325888.12:c.6170T>C (FLNC) | ENSP00000327145.8:p.Phe2057Ser | |
| ENST00000346177.6:c.6071T>C (FLNC) | ENSP00000344002.6:p.Phe2024Ser | |
| NM_001127487.1:c.6071T>C (FLNC) | NP_001120959.1:p.Phe2024Ser | |
| NM_001458.4:c.6170T>C , LRG_870t1:c.6170T>C (FLNC) | NP_001449.3:p.Phe2057Ser | |
| NR_149055.1:n.215+292A>G (FLNC-AS1) | ||
| NM_001127487.2:c.6071T>C (FLNC) | NP_001120959.1:p.Phe2024Ser | |
| NM_001458.5:c.6170T>C (FLNC) MANE Select | NP_001449.3:p.Phe2057Ser |