Canonical Allele Identifier: CA2580617917
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2579031
ClinVar RCV Id: RCV003327191
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128857256_128857259dup , CM000669.2:g.128857256_128857259dup GRCh38
NC_000007.13:g.128497310_128497313dup , CM000669.1:g.128497310_128497313dup GRCh37
NC_000007.12:g.128284546_128284549dup NCBI36
NG_011807.1:g.31828_31831dup , LRG_870:g.31828_31831dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.7700_7703dup (FLNC) MANE Select ENSP00000327145.8:p.Gly2569ProfsTer?
ENST00000325888.12:c.7700_7703dup (FLNC) ENSP00000327145.8:p.Gly2569ProfsTer?
ENST00000346177.6:c.7601_7604dup (FLNC) ENSP00000344002.6:p.Gly2536ProfsTer?
NM_001127487.1:c.7601_7604dup (FLNC) NP_001120959.1:p.Gly2536ProfsTer?
NM_001458.4:c.7700_7703dup , LRG_870t1:c.7700_7703dup (FLNC) NP_001449.3:p.Gly2569ProfsTer?
NR_149055.1:n.103-3862_103-3859dup (FLNC-AS1)
NM_001127487.2:c.7601_7604dup (FLNC) NP_001120959.1:p.Gly2536ProfsTer?
NM_001458.5:c.7700_7703dup (FLNC) MANE Select NP_001449.3:p.Gly2569ProfsTer?
Search 100 bp 5'
Search 100 bp 3'