Canonical Allele Identifier: CA2740094860
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2947562
ClinVar RCV Id: RCV003804192

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128856542_128856547del , CM000669.2:g.128856542_128856547del GRCh38
NC_000007.13:g.128496596_128496601del , CM000669.1:g.128496596_128496601del GRCh37
NC_000007.12:g.128283832_128283837del NCBI36
NG_011807.1:g.31114_31119del , LRG_870:g.31114_31119del

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.7276_7281del (FLNC) MANE Select ENSP00000327145.8:p.Pro2426_Ala2427del
ENST00000325888.12:c.7276_7281del (FLNC) ENSP00000327145.8:p.Pro2426_Ala2427del
ENST00000346177.6:c.7177_7182del (FLNC) ENSP00000344002.6:p.Pro2393_Ala2394del
NM_001127487.1:c.7177_7182del (FLNC) NP_001120959.1:p.Pro2393_Ala2394del
NM_001458.4:c.7276_7281del , LRG_870t1:c.7276_7281del (FLNC) NP_001449.3:p.Pro2426_Ala2427del
NR_149055.1:n.103-3149_103-3144del (FLNC-AS1)
NM_001127487.2:c.7177_7182del (FLNC) NP_001120959.1:p.Pro2393_Ala2394del
NM_001458.5:c.7276_7281del (FLNC) MANE Select NP_001449.3:p.Pro2426_Ala2427del