Linked Data
ClinVar Variation Id:
848269
ClinVar RCV Id:
RCV001051989
dbSNP Id:
rs771689118
ExAC:
7:128497257 G / T
gnomAD v2:
7-128497257-G-T
gnomAD v3:
7-128857203-G-T
gnomAD v4:
7-128857203-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128857203G>T , CM000669.2:g.128857203G>T | GRCh38 |
| NC_000007.13:g.128497257G>T , CM000669.1:g.128497257G>T | GRCh37 |
| NC_000007.12:g.128284493G>T | NCBI36 |
| NG_011807.1:g.31775G>T , LRG_870:g.31775G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.7647G>T (FLNC) MANE Select | ENSP00000327145.8:p.Gln2549His | |
| ENST00000325888.12:c.7647G>T (FLNC) | ENSP00000327145.8:p.Gln2549His | |
| ENST00000346177.6:c.7548G>T (FLNC) | ENSP00000344002.6:p.Gln2516His | |
| NM_001127487.1:c.7548G>T (FLNC) | NP_001120959.1:p.Gln2516His | |
| NM_001458.4:c.7647G>T , LRG_870t1:c.7647G>T (FLNC) | NP_001449.3:p.Gln2549His | |
| NR_149055.1:n.103-3806C>A (FLNC-AS1) | ||
| NM_001127487.2:c.7548G>T (FLNC) | NP_001120959.1:p.Gln2516His | |
| NM_001458.5:c.7647G>T (FLNC) MANE Select | NP_001449.3:p.Gln2549His |