Canonical Allele Identifier: CA2573052819
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1322926
ClinVar RCV Id: RCV001783301
dbSNP Id: rs2128940685

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128858439_128858440insT , CM000669.2:g.128858439_128858440insT GRCh38
NC_000007.13:g.128498493_128498494insT , CM000669.1:g.128498493_128498494insT GRCh37
NC_000007.12:g.128285729_128285730insT NCBI36
NG_011807.1:g.33011_33012insT , LRG_870:g.33011_33012insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.8094_8095insT (FLNC) MANE Select ENSP00000327145.8:p.Lys2699Ter
ENST00000325888.12:c.8094_8095insT (FLNC) ENSP00000327145.8:p.Lys2699Ter
ENST00000346177.6:c.7995_7996insT (FLNC) ENSP00000344002.6:p.Lys2666Ter
NM_001127487.1:c.7995_7996insT (FLNC) NP_001120959.1:p.Lys2666Ter
NM_001458.4:c.8094_8095insT , LRG_870t1:c.8094_8095insT (FLNC) NP_001449.3:p.Lys2699Ter
NR_149055.1:n.102+4085_102+4086insA (FLNC-AS1)
NM_001127487.2:c.7995_7996insT (FLNC) NP_001120959.1:p.Lys2666Ter
NM_001458.5:c.8094_8095insT (FLNC) MANE Select NP_001449.3:p.Lys2699Ter