Canonical Allele Identifier: CA2573052818
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1338863
ClinVar RCV Id: RCV001823317
dbSNP Id: rs2128938102
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128850470dup , CM000669.2:g.128850470dup GRCh38
NC_000007.13:g.128490524dup , CM000669.1:g.128490524dup GRCh37
NC_000007.12:g.128277760dup NCBI36
NG_011807.1:g.25042dup , LRG_870:g.25042dup

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.5385dup (FLNC) MANE Select ENSP00000327145.8:p.Gly1796ArgfsTer?
ENST00000325888.12:c.5385dup (FLNC) ENSP00000327145.8:p.Gly1796ArgfsTer?
ENST00000346177.6:c.5286dup (FLNC) ENSP00000344002.6:p.Gly1763ArgfsTer?
NM_001127487.1:c.5286dup (FLNC) NP_001120959.1:p.Gly1763ArgfsTer?
NM_001458.4:c.5385dup , LRG_870t1:c.5385dup (FLNC) NP_001449.3:p.Gly1796ArgfsTer?
NR_149055.1:n.316-63dup (FLNC-AS1)
NM_001127487.2:c.5286dup (FLNC) NP_001120959.1:p.Gly1763ArgfsTer?
NM_001458.5:c.5385dup (FLNC) MANE Select NP_001449.3:p.Gly1796ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'