Canonical Allele Identifier: CA457850752
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1635038
ClinVar RCV Id: RCV002133157
dbSNP Id: rs1809108536
MyVariant Identifiers: chr7:g.128497362G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128857308G>A , CM000669.2:g.128857308G>A GRCh38
NC_000007.13:g.128497362G>A , CM000669.1:g.128497362G>A GRCh37
NC_000007.12:g.128284598G>A NCBI36
NG_011807.1:g.31880G>A , LRG_870:g.31880G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.7752G>A (FLNC) MANE Select ENSP00000327145.8:p.Val2584=
ENST00000325888.12:c.7752G>A (FLNC) ENSP00000327145.8:p.Val2584=
ENST00000346177.6:c.7653G>A (FLNC) ENSP00000344002.6:p.Val2551=
NM_001127487.1:c.7653G>A (FLNC) NP_001120959.1:p.Val2551=
NM_001458.4:c.7752G>A , LRG_870t1:c.7752G>A (FLNC) NP_001449.3:p.Val2584=
NR_149055.1:n.103-3911C>T (FLNC-AS1)
NM_001127487.2:c.7653G>A (FLNC) NP_001120959.1:p.Val2551=
NM_001458.5:c.7752G>A (FLNC) MANE Select NP_001449.3:p.Val2584=