Linked Data
ClinVar Variation Id:
2942560
ClinVar RCV Id:
RCV003807726
dbSNP Id:
rs752213147
ExAC:
7:128493879 C / T
gnomAD v2:
7-128493879-C-T
gnomAD v4:
7-128853825-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128853825C>T , CM000669.2:g.128853825C>T | GRCh38 |
| NC_000007.13:g.128493879C>T , CM000669.1:g.128493879C>T | GRCh37 |
| NC_000007.12:g.128281115C>T | NCBI36 |
| NG_011807.1:g.28397C>T , LRG_870:g.28397C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.6472C>T (FLNC) MANE Select | ENSP00000327145.8:p.Leu2158Phe | |
| ENST00000325888.12:c.6472C>T (FLNC) | ENSP00000327145.8:p.Leu2158Phe | |
| ENST00000346177.6:c.6373C>T (FLNC) | ENSP00000344002.6:p.Leu2125Phe | |
| NM_001127487.1:c.6373C>T (FLNC) | NP_001120959.1:p.Leu2125Phe | |
| NM_001458.4:c.6472C>T , LRG_870t1:c.6472C>T (FLNC) | NP_001449.3:p.Leu2158Phe | |
| NR_149055.1:n.103-428G>A (FLNC-AS1) | ||
| NM_001127487.2:c.6373C>T (FLNC) | NP_001120959.1:p.Leu2125Phe | |
| NM_001458.5:c.6472C>T (FLNC) MANE Select | NP_001449.3:p.Leu2158Phe |