Canonical Allele Identifier: CA1139660244
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 967987
ClinVar RCV Id: RCV001243023
dbSNP Id: rs1809109008

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128857313_128857314delinsA , CM000669.2:g.128857313_128857314delinsA GRCh38
NC_000007.13:g.128497367_128497368delinsA , CM000669.1:g.128497367_128497368delinsA GRCh37
NC_000007.12:g.128284603_128284604delinsA NCBI36
NG_011807.1:g.31885_31886delinsA , LRG_870:g.31885_31886delinsA

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.7757_7758delinsA (FLNC) MANE Select ENSP00000327145.8:p.Ser2586AsnfsTer29
ENST00000325888.12:c.7757_7758delinsA (FLNC) ENSP00000327145.8:p.Ser2586AsnfsTer29
ENST00000346177.6:c.7658_7659delinsA (FLNC) ENSP00000344002.6:p.Ser2553AsnfsTer29
NM_001127487.1:c.7658_7659delinsA (FLNC) NP_001120959.1:p.Ser2553AsnfsTer29
NM_001458.4:c.7757_7758delinsA , LRG_870t1:c.7757_7758delinsA (FLNC) NP_001449.3:p.Ser2586AsnfsTer29
NR_149055.1:n.103-3917_103-3916delinsT (FLNC-AS1)
NM_001127487.2:c.7658_7659delinsA (FLNC) NP_001120959.1:p.Ser2553AsnfsTer29
NM_001458.5:c.7757_7758delinsA (FLNC) MANE Select NP_001449.3:p.Ser2586AsnfsTer29