Canonical Allele Identifier: CA2499218757
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1074155
ClinVar RCV Id: RCV001387372 RCV003155406
dbSNP Id: rs2128940399
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128857306_128857325dup , CM000669.2:g.128857306_128857325dup GRCh38
NC_000007.13:g.128497360_128497379dup , CM000669.1:g.128497360_128497379dup GRCh37
NC_000007.12:g.128284596_128284615dup NCBI36
NG_011807.1:g.31878_31897dup , LRG_870:g.31878_31897dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.7750_7769dup (FLNC) MANE Select ENSP00000327145.8:p.Lys2591TrpfsTer31
ENST00000325888.12:c.7750_7769dup (FLNC) ENSP00000327145.8:p.Lys2591TrpfsTer31
ENST00000346177.6:c.7651_7670dup (FLNC) ENSP00000344002.6:p.Lys2558TrpfsTer31
NM_001127487.1:c.7651_7670dup (FLNC) NP_001120959.1:p.Lys2558TrpfsTer31
NM_001458.4:c.7750_7769dup , LRG_870t1:c.7750_7769dup (FLNC) NP_001449.3:p.Lys2591TrpfsTer31
NR_149055.1:n.103-3927_103-3908dup (FLNC-AS1)
NM_001127487.2:c.7651_7670dup (FLNC) NP_001120959.1:p.Lys2558TrpfsTer31
NM_001458.5:c.7750_7769dup (FLNC) MANE Select NP_001449.3:p.Lys2591TrpfsTer31
Search 100 bp 5'
Search 100 bp 3'