Canonical Allele Identifier: CA4476386
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 258153
ClinVar RCV Id: RCV000244124 RCV000542823 RCV000577968 RCV000578026 RCV000578028 RCV000578102 RCV000578104 RCV001697691 RCV002418082 RCV003486791
dbSNP Id: rs368849358
ExAC: 7:128498228 C / T
gnomAD v2: 7-128498228-C-T
gnomAD v3: 7-128858174-C-T
gnomAD v4: 7-128858174-C-T
MyVariant Identifiers: chr7:g.128498228C>T (hg19) chr7:g.128858174C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128858174C>T , CM000669.2:g.128858174C>T GRCh38
NC_000007.13:g.128498228C>T , CM000669.1:g.128498228C>T GRCh37
NC_000007.12:g.128285464C>T NCBI36
NG_011807.1:g.32746C>T , LRG_870:g.32746C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.7947C>T (FLNC) MANE Select ENSP00000327145.8:p.Phe2649=
ENST00000325888.12:c.7947C>T (FLNC) ENSP00000327145.8:p.Phe2649=
ENST00000346177.6:c.7848C>T (FLNC) ENSP00000344002.6:p.Phe2616=
NM_001127487.1:c.7848C>T (FLNC) NP_001120959.1:p.Phe2616=
NM_001458.4:c.7947C>T , LRG_870t1:c.7947C>T (FLNC) NP_001449.3:p.Phe2649=
NR_149055.1:n.102+4351G>A (FLNC-AS1)
NM_001127487.2:c.7848C>T (FLNC) NP_001120959.1:p.Phe2616=
NM_001458.5:c.7947C>T (FLNC) MANE Select NP_001449.3:p.Phe2649=
Search 100 bp 5'
Search 100 bp 3'