Canonical Allele Identifier: CA4476004
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1142938
ClinVar RCV Id: RCV001480906 RCV002368475
dbSNP Id: rs372665009
ExAC: 7:128494047 G / A
gnomAD v2: 7-128494047-G-A
gnomAD v3: 7-128853993-G-A
gnomAD v4: 7-128853993-G-A
MyVariant Identifiers: chr7:g.128494047G>A (hg19) chr7:g.128853993G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128853993G>A , CM000669.2:g.128853993G>A GRCh38
NC_000007.13:g.128494047G>A , CM000669.1:g.128494047G>A GRCh37
NC_000007.12:g.128281283G>A NCBI36
NG_011807.1:g.28565G>A , LRG_870:g.28565G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.6504G>A (FLNC) MANE Select ENSP00000327145.8:p.Val2168=
ENST00000325888.12:c.6504G>A (FLNC) ENSP00000327145.8:p.Val2168=
ENST00000346177.6:c.6405G>A (FLNC) ENSP00000344002.6:p.Val2135=
NM_001127487.1:c.6405G>A (FLNC) NP_001120959.1:p.Val2135=
NM_001458.4:c.6504G>A , LRG_870t1:c.6504G>A (FLNC) NP_001449.3:p.Val2168=
NR_149055.1:n.103-596C>T (FLNC-AS1)
NM_001127487.2:c.6405G>A (FLNC) NP_001120959.1:p.Val2135=
NM_001458.5:c.6504G>A (FLNC) MANE Select NP_001449.3:p.Val2168=
Search 100 bp 5'
Search 100 bp 3'