Linked Data
ClinVar Variation Id:
539459
ClinVar RCV Id:
RCV000649196
dbSNP Id:
rs771715893
ExAC:
7:128492892 C / T
gnomAD v2:
7-128492892-C-T
gnomAD v3:
7-128852838-C-T
gnomAD v4:
7-128852838-C-T
COSMIC:
COSM744599
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128852838C>T , CM000669.2:g.128852838C>T | GRCh38 |
| NC_000007.13:g.128492892C>T , CM000669.1:g.128492892C>T | GRCh37 |
| NC_000007.12:g.128280128C>T | NCBI36 |
| NG_011807.1:g.27410C>T , LRG_870:g.27410C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.6015C>T (FLNC) MANE Select | ENSP00000327145.8:p.Phe2005= | |
| ENST00000325888.12:c.6015C>T (FLNC) | ENSP00000327145.8:p.Phe2005= | |
| ENST00000346177.6:c.5916C>T (FLNC) | ENSP00000344002.6:p.Phe1972= | |
| NM_001127487.1:c.5916C>T (FLNC) | NP_001120959.1:p.Phe1972= | |
| NM_001458.4:c.6015C>T , LRG_870t1:c.6015C>T (FLNC) | NP_001449.3:p.Phe2005= | |
| NR_149055.1:n.215+447G>A (FLNC-AS1) | ||
| NM_001127487.2:c.5916C>T (FLNC) | NP_001120959.1:p.Phe1972= | |
| NM_001458.5:c.6015C>T (FLNC) MANE Select | NP_001449.3:p.Phe2005= |