Canonical Allele Identifier: CA578151182
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1190282
ClinVar RCV Id: RCV001550930
dbSNP Id: rs60473969

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128858594_128858599dup , CM000669.2:g.128858594_128858599dup GRCh38
NC_000007.13:g.128498648_128498653dup , CM000669.1:g.128498648_128498653dup GRCh37
NC_000007.12:g.128285884_128285889dup NCBI36
NG_011807.1:g.33166_33171dup , LRG_870:g.33166_33171dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.*71_*76dup (FLNC) MANE Select ENSP00000327145.8:n.*71_*76dup
ENST00000325888.12:c.*71_*76dup (FLNC) ENSP00000327145.8:n.*71_*76dup
ENST00000346177.6:c.*71_*76dup (FLNC) ENSP00000344002.6:n.*71_*76dup
NM_001127487.1:c.*71_*76dup (FLNC) NP_001120959.1:n.*71_*76dup
NM_001458.4:c.*71_*76dup , LRG_870t1:c.*71_*76dup (FLNC) NP_001449.3:n.*71_*76dup
NR_149055.1:n.102+3943_102+3948dup (FLNC-AS1)
NM_001127487.2:c.*71_*76dup (FLNC) NP_001120959.1:n.*71_*76dup
NM_001458.5:c.*71_*76dup (FLNC) MANE Select NP_001449.3:n.*71_*76dup