Canonical Allele Identifier: CA231117
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 129092
ClinVar RCV Id: RCV000117077 RCV000811021 RCV002490794 RCV003352772
dbSNP Id: rs587780337
ExAC: 7:128490516 G / A
gnomAD v2: 7-128490516-G-A
gnomAD v3: 7-128850462-G-A
gnomAD v4: 7-128850462-G-A
MyVariant Identifiers: chr7:g.128490516G>A (hg19) chr7:g.128850462G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128850462G>A , CM000669.2:g.128850462G>A GRCh38
NC_000007.13:g.128490516G>A , CM000669.1:g.128490516G>A GRCh37
NC_000007.12:g.128277752G>A NCBI36
NG_011807.1:g.25034G>A , LRG_870:g.25034G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.5377G>A (FLNC) MANE Select ENSP00000327145.8:p.Val1793Met
ENST00000325888.12:c.5377G>A (FLNC) ENSP00000327145.8:p.Val1793Met
ENST00000346177.6:c.5278G>A (FLNC) ENSP00000344002.6:p.Val1760Met
NM_001127487.1:c.5278G>A (FLNC) NP_001120959.1:p.Val1760Met
NM_001458.4:c.5377G>A , LRG_870t1:c.5377G>A (FLNC) NP_001449.3:p.Val1793Met
NR_149055.1:n.316-57C>T (FLNC-AS1)
NM_001127487.2:c.5278G>A (FLNC) NP_001120959.1:p.Val1760Met
NM_001458.5:c.5377G>A (FLNC) MANE Select NP_001449.3:p.Val1793Met
Search 100 bp 5'
Search 100 bp 3'