Canonical Allele Identifier: CA1742552215
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1452694
ClinVar RCV Id: RCV001999940
dbSNP Id: rs1809161384

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128858396del , CM000669.2:g.128858396del GRCh38
NC_000007.13:g.128498450del , CM000669.1:g.128498450del GRCh37
NC_000007.12:g.128285686del NCBI36
NG_011807.1:g.32968del , LRG_870:g.32968del

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.8051del (FLNC) MANE Select ENSP00000327145.8:p.Val2684GlyfsTer?
ENST00000325888.12:c.8051del (FLNC) ENSP00000327145.8:p.Val2684GlyfsTer?
ENST00000346177.6:c.7952del (FLNC) ENSP00000344002.6:p.Val2651GlyfsTer?
NM_001127487.1:c.7952del (FLNC) NP_001120959.1:p.Val2651GlyfsTer?
NM_001458.4:c.8051del , LRG_870t1:c.8051del (FLNC) NP_001449.3:p.Val2684GlyfsTer?
NR_149055.1:n.102+4129del (FLNC-AS1)
NM_001127487.2:c.7952del (FLNC) NP_001120959.1:p.Val2651GlyfsTer?
NM_001458.5:c.8051del (FLNC) MANE Select NP_001449.3:p.Val2684GlyfsTer?