Canonical Allele Identifier: CA1742552073
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1041005
ClinVar RCV Id: RCV001344746
dbSNP Id: rs1809158348

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128858350_128858352del , CM000669.2:g.128858350_128858352del GRCh38
NC_000007.13:g.128498404_128498406del , CM000669.1:g.128498404_128498406del GRCh37
NC_000007.12:g.128285640_128285642del NCBI36
NG_011807.1:g.32922_32924del , LRG_870:g.32922_32924del

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.8005_8007del (FLNC) MANE Select ENSP00000327145.8:p.Met2669del
ENST00000325888.12:c.8005_8007del (FLNC) ENSP00000327145.8:p.Met2669del
ENST00000346177.6:c.7906_7908del (FLNC) ENSP00000344002.6:p.Met2636del
NM_001127487.1:c.7906_7908del (FLNC) NP_001120959.1:p.Met2636del
NM_001458.4:c.8005_8007del , LRG_870t1:c.8005_8007del (FLNC) NP_001449.3:p.Met2669del
NR_149055.1:n.102+4179_102+4181del (FLNC-AS1)
NM_001127487.2:c.7906_7908del (FLNC) NP_001120959.1:p.Met2636del
NM_001458.5:c.8005_8007del (FLNC) MANE Select NP_001449.3:p.Met2669del