Linked Data
ClinVar Variation Id:
2040151
ClinVar RCV Id:
RCV002886281
MyVariant Identifiers:
chr7:g.128491672C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128851618C>A , CM000669.2:g.128851618C>A | GRCh38 |
| NC_000007.13:g.128491672C>A , CM000669.1:g.128491672C>A | GRCh37 |
| NC_000007.12:g.128278908C>A | NCBI36 |
| NG_011807.1:g.26190C>A , LRG_870:g.26190C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.5832C>A (FLNC) MANE Select | ENSP00000327145.8:p.Ala1944= | |
| ENST00000325888.12:c.5832C>A (FLNC) | ENSP00000327145.8:p.Ala1944= | |
| ENST00000346177.6:c.5733C>A (FLNC) | ENSP00000344002.6:p.Ala1911= | |
| NM_001127487.1:c.5733C>A (FLNC) | NP_001120959.1:p.Ala1911= | |
| NM_001458.4:c.5832C>A , LRG_870t1:c.5832C>A (FLNC) | NP_001449.3:p.Ala1944= | |
| NR_149055.1:n.216-118G>T (FLNC-AS1) | ||
| NM_001127487.2:c.5733C>A (FLNC) | NP_001120959.1:p.Ala1911= | |
| NM_001458.5:c.5832C>A (FLNC) MANE Select | NP_001449.3:p.Ala1944= |