Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128858388G>A , CM000669.2:g.128858388G>A | GRCh38 |
| NC_000007.13:g.128498442G>A , CM000669.1:g.128498442G>A | GRCh37 |
| NC_000007.12:g.128285678G>A | NCBI36 |
| NG_011807.1:g.32960G>A , LRG_870:g.32960G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000325888.13:c.8043G>A (FLNC) MANE Select | ENSP00000327145.8:p.Glu2681= | |
| ENST00000325888.12:c.8043G>A (FLNC) | ENSP00000327145.8:p.Glu2681= | |
| ENST00000346177.6:c.7944G>A (FLNC) | ENSP00000344002.6:p.Glu2648= | |
| NM_001127487.1:c.7944G>A (FLNC) | NP_001120959.1:p.Glu2648= | |
| NM_001458.4:c.8043G>A , LRG_870t1:c.8043G>A (FLNC) | NP_001449.3:p.Glu2681= | |
| NR_149055.1:n.102+4137C>T (FLNC-AS1) | ||
| NM_001127487.2:c.7944G>A (FLNC) | NP_001120959.1:p.Glu2648= | |
| NM_001458.5:c.8043G>A (FLNC) MANE Select | NP_001449.3:p.Glu2681= |