Canonical Allele Identifier: CA2580076628
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1999789
ClinVar RCV Id: RCV002819860

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128852637_128852644dup , CM000669.2:g.128852637_128852644dup GRCh38
NC_000007.13:g.128492691_128492698dup , CM000669.1:g.128492691_128492698dup GRCh37
NC_000007.12:g.128279927_128279934dup NCBI36
NG_011807.1:g.27209_27216dup , LRG_870:g.27209_27216dup

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.5889_5896dup (FLNC) MANE Select ENSP00000327145.8:p.Ser1966TrpfsTer5
ENST00000325888.12:c.5889_5896dup (FLNC) ENSP00000327145.8:p.Ser1966TrpfsTer5
ENST00000346177.6:c.5790_5797dup (FLNC) ENSP00000344002.6:p.Ser1933TrpfsTer5
NM_001127487.1:c.5790_5797dup (FLNC) NP_001120959.1:p.Ser1933TrpfsTer5
NM_001458.4:c.5889_5896dup , LRG_870t1:c.5889_5896dup (FLNC) NP_001449.3:p.Ser1966TrpfsTer5
NR_149055.1:n.215+641_215+648dup (FLNC-AS1)
NM_001127487.2:c.5790_5797dup (FLNC) NP_001120959.1:p.Ser1933TrpfsTer5
NM_001458.5:c.5889_5896dup (FLNC) MANE Select NP_001449.3:p.Ser1966TrpfsTer5