Canonical Allele Identifier: CA891842998
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 574095
ClinVar RCV Id: RCV000695927
dbSNP Id: rs1563003153

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128853800del , CM000669.2:g.128853800del GRCh38
NC_000007.13:g.128493854del , CM000669.1:g.128493854del GRCh37
NC_000007.12:g.128281090del NCBI36
NG_011807.1:g.28372del , LRG_870:g.28372del

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.6447del (FLNC) MANE Select ENSP00000327145.8:p.Ile2150SerfsTer25
ENST00000325888.12:c.6447del (FLNC) ENSP00000327145.8:p.Ile2150SerfsTer25
ENST00000346177.6:c.6348del (FLNC) ENSP00000344002.6:p.Ile2117SerfsTer25
NM_001127487.1:c.6348del (FLNC) NP_001120959.1:p.Ile2117SerfsTer25
NM_001458.4:c.6447del , LRG_870t1:c.6447del (FLNC) NP_001449.3:p.Ile2150SerfsTer25
NR_149055.1:n.103-402del (FLNC-AS1)
NM_001127487.2:c.6348del (FLNC) NP_001120959.1:p.Ile2117SerfsTer25
NM_001458.5:c.6447del (FLNC) MANE Select NP_001449.3:p.Ile2150SerfsTer25