Canonical Allele Identifier: CA915945513
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 640320
ClinVar RCV Id: RCV000793322
dbSNP Id: rs1585167678

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128852652dup , CM000669.2:g.128852652dup GRCh38
NC_000007.13:g.128492706dup , CM000669.1:g.128492706dup GRCh37
NC_000007.12:g.128279942dup NCBI36
NG_011807.1:g.27224dup , LRG_870:g.27224dup

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.5904dup (FLNC) MANE Select ENSP00000327145.8:p.Ile1969AspfsTer5
ENST00000325888.12:c.5904dup (FLNC) ENSP00000327145.8:p.Ile1969AspfsTer5
ENST00000346177.6:c.5805dup (FLNC) ENSP00000344002.6:p.Ile1936AspfsTer5
NM_001127487.1:c.5805dup (FLNC) NP_001120959.1:p.Ile1936AspfsTer5
NM_001458.4:c.5904dup , LRG_870t1:c.5904dup (FLNC) NP_001449.3:p.Ile1969AspfsTer5
NR_149055.1:n.215+633dup (FLNC-AS1)
NM_001127487.2:c.5805dup (FLNC) NP_001120959.1:p.Ile1936AspfsTer5
NM_001458.5:c.5904dup (FLNC) MANE Select NP_001449.3:p.Ile1969AspfsTer5