Linked Data
ClinVar Variation Id:
1042329
ClinVar RCV Id:
RCV001346263
dbSNP Id:
rs1358590777
gnomAD v2:
7-128494066-A-C
gnomAD v3:
7-128854012-A-C
gnomAD v4:
7-128854012-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128854012A>C , CM000669.2:g.128854012A>C | GRCh38 |
| NC_000007.13:g.128494066A>C , CM000669.1:g.128494066A>C | GRCh37 |
| NC_000007.12:g.128281302A>C | NCBI36 |
| NG_011807.1:g.28584A>C , LRG_870:g.28584A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.6523A>C (FLNC) MANE Select | ENSP00000327145.8:p.Thr2175Pro | |
| ENST00000325888.12:c.6523A>C (FLNC) | ENSP00000327145.8:p.Thr2175Pro | |
| ENST00000346177.6:c.6424A>C (FLNC) | ENSP00000344002.6:p.Thr2142Pro | |
| NM_001127487.1:c.6424A>C (FLNC) | NP_001120959.1:p.Thr2142Pro | |
| NM_001458.4:c.6523A>C , LRG_870t1:c.6523A>C (FLNC) | NP_001449.3:p.Thr2175Pro | |
| NR_149055.1:n.103-615T>G (FLNC-AS1) | ||
| NM_001127487.2:c.6424A>C (FLNC) | NP_001120959.1:p.Thr2142Pro | |
| NM_001458.5:c.6523A>C (FLNC) MANE Select | NP_001449.3:p.Thr2175Pro |