Canonical Allele Identifier: CA4475780
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 472110
ClinVar RCV Id: RCV000540690 RCV002358572
dbSNP Id: rs376653815
ExAC: 7:128491617 A / G
gnomAD v2: 7-128491617-A-G
COSMIC: COSM1580918
MyVariant Identifiers: chr7:g.128491617A>G (hg19) chr7:g.128851563A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128851563A>G , CM000669.2:g.128851563A>G GRCh38
NC_000007.13:g.128491617A>G , CM000669.1:g.128491617A>G GRCh37
NC_000007.12:g.128278853A>G NCBI36
NG_011807.1:g.26135A>G , LRG_870:g.26135A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.5777A>G (FLNC) MANE Select ENSP00000327145.8:p.Tyr1926Cys
ENST00000325888.12:c.5777A>G (FLNC) ENSP00000327145.8:p.Tyr1926Cys
ENST00000346177.6:c.5678A>G (FLNC) ENSP00000344002.6:p.Tyr1893Cys
NM_001127487.1:c.5678A>G (FLNC) NP_001120959.1:p.Tyr1893Cys
NM_001458.4:c.5777A>G , LRG_870t1:c.5777A>G (FLNC) NP_001449.3:p.Tyr1926Cys
NR_149055.1:n.216-63T>C (FLNC-AS1)
NM_001127487.2:c.5678A>G (FLNC) NP_001120959.1:p.Tyr1893Cys
NM_001458.5:c.5777A>G (FLNC) MANE Select NP_001449.3:p.Tyr1926Cys
Search 100 bp 5'
Search 100 bp 3'