Canonical Allele Identifier: CA369219973
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1483054
ClinVar RCV Id: RCV002025333
dbSNP Id: rs1268909811
gnomAD v2: 7-128497384-G-T
gnomAD v4: 7-128857330-G-T
COSMIC: COSM3949925
MyVariant Identifiers: chr7:g.128497384G>T (hg19) chr7:g.128857330G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128857330G>T , CM000669.2:g.128857330G>T GRCh38
NC_000007.13:g.128497384G>T , CM000669.1:g.128497384G>T GRCh37
NC_000007.12:g.128284620G>T NCBI36
NG_011807.1:g.31902G>T , LRG_870:g.31902G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.7774G>T (FLNC) MANE Select ENSP00000327145.8:p.Val2592Phe
ENST00000325888.12:c.7774G>T (FLNC) ENSP00000327145.8:p.Val2592Phe
ENST00000346177.6:c.7675G>T (FLNC) ENSP00000344002.6:p.Val2559Phe
NM_001127487.1:c.7675G>T (FLNC) NP_001120959.1:p.Val2559Phe
NM_001458.4:c.7774G>T , LRG_870t1:c.7774G>T (FLNC) NP_001449.3:p.Val2592Phe
NR_149055.1:n.103-3933C>A (FLNC-AS1)
NM_001127487.2:c.7675G>T (FLNC) NP_001120959.1:p.Val2559Phe
NM_001458.5:c.7774G>T (FLNC) MANE Select NP_001449.3:p.Val2592Phe
Search 100 bp 5'
Search 100 bp 3'