Canonical Allele Identifier: CA258151
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18314
ClinVar RCV Id: RCV000019978 RCV001052798 RCV001091493
dbSNP Id: rs121909518
COSMIC: COSM4798213
MyVariant Identifiers: chr7:g.128498529G>A (hg19) chr7:g.128858475G>A (hg38)
PubMed: PMID:15929027 PMID:17412757
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128858475G>A , CM000669.2:g.128858475G>A GRCh38
NC_000007.13:g.128498529G>A , CM000669.1:g.128498529G>A GRCh37
NC_000007.12:g.128285765G>A NCBI36
NG_011807.1:g.33047G>A , LRG_870:g.33047G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.8130G>A (FLNC) MANE Select ENSP00000327145.8:p.Trp2710Ter
ENST00000325888.12:c.8130G>A (FLNC) ENSP00000327145.8:p.Trp2710Ter
ENST00000346177.6:c.8031G>A (FLNC) ENSP00000344002.6:p.Trp2677Ter
NM_001127487.1:c.8031G>A (FLNC) NP_001120959.1:p.Trp2677Ter
NM_001458.4:c.8130G>A , LRG_870t1:c.8130G>A (FLNC) NP_001449.3:p.Trp2710Ter
NR_149055.1:n.102+4050C>T (FLNC-AS1)
NM_001127487.2:c.8031G>A (FLNC) NP_001120959.1:p.Trp2677Ter
NM_001458.5:c.8130G>A (FLNC) MANE Select NP_001449.3:p.Trp2710Ter
Search 100 bp 5'
Search 100 bp 3'