Canonical Allele Identifier: CA369208463
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 472111
ClinVar RCV Id: RCV000548628 RCV000764687 RCV001755877
dbSNP Id: rs780685346
gnomAD v2: 7-128491632-G-A
gnomAD v3: 7-128851578-G-A
gnomAD v4: 7-128851578-G-A
COSMIC: COSM452311
MyVariant Identifiers: chr7:g.128491632G>A (hg19) chr7:g.128851578G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128851578G>A , CM000669.2:g.128851578G>A GRCh38
NC_000007.13:g.128491632G>A , CM000669.1:g.128491632G>A GRCh37
NC_000007.12:g.128278868G>A NCBI36
NG_011807.1:g.26150G>A , LRG_870:g.26150G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.5792G>A (FLNC) MANE Select ENSP00000327145.8:p.Arg1931His
ENST00000325888.12:c.5792G>A (FLNC) ENSP00000327145.8:p.Arg1931His
ENST00000346177.6:c.5693G>A (FLNC) ENSP00000344002.6:p.Arg1898His
NM_001127487.1:c.5693G>A (FLNC) NP_001120959.1:p.Arg1898His
NM_001458.4:c.5792G>A , LRG_870t1:c.5792G>A (FLNC) NP_001449.3:p.Arg1931His
NR_149055.1:n.216-78C>T (FLNC-AS1)
NM_001127487.2:c.5693G>A (FLNC) NP_001120959.1:p.Arg1898His
NM_001458.5:c.5792G>A (FLNC) MANE Select NP_001449.3:p.Arg1931His
Search 100 bp 5'
Search 100 bp 3'