Canonical Allele Identifier: CA2580076671
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1801708
ClinVar RCV Id: RCV002463867

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128852846dup , CM000669.2:g.128852846dup GRCh38
NC_000007.13:g.128492900dup , CM000669.1:g.128492900dup GRCh37
NC_000007.12:g.128280136dup NCBI36
NG_011807.1:g.27418dup , LRG_870:g.27418dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.6023dup (FLNC) MANE Select ENSP00000327145.8:p.Glu2009GlyfsTer29
ENST00000325888.12:c.6023dup (FLNC) ENSP00000327145.8:p.Glu2009GlyfsTer29
ENST00000346177.6:c.5924dup (FLNC) ENSP00000344002.6:p.Glu1976GlyfsTer29
NM_001127487.1:c.5924dup (FLNC) NP_001120959.1:p.Glu1976GlyfsTer29
NM_001458.4:c.6023dup , LRG_870t1:c.6023dup (FLNC) NP_001449.3:p.Glu2009GlyfsTer29
NR_149055.1:n.215+440dup (FLNC-AS1)
NM_001127487.2:c.5924dup (FLNC) NP_001120959.1:p.Glu1976GlyfsTer29
NM_001458.5:c.6023dup (FLNC) MANE Select NP_001449.3:p.Glu2009GlyfsTer29