Canonical Allele Identifier: CA4475776
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 285429
ClinVar RCV Id: RCV000355985 RCV000842225 RCV001078596 RCV002356383 RCV003486805
dbSNP Id: rs202128602
ExAC: 7:128491604 G / A
gnomAD v2: 7-128491604-G-A
gnomAD v3: 7-128851550-G-A
gnomAD v4: 7-128851550-G-A
COSMIC: COSM2769456
MyVariant Identifiers: chr7:g.128491604G>A (hg19) chr7:g.128851550G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128851550G>A , CM000669.2:g.128851550G>A GRCh38
NC_000007.13:g.128491604G>A , CM000669.1:g.128491604G>A GRCh37
NC_000007.12:g.128278840G>A NCBI36
NG_011807.1:g.26122G>A , LRG_870:g.26122G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.5764G>A (FLNC) MANE Select ENSP00000327145.8:p.Ala1922Thr
ENST00000325888.12:c.5764G>A (FLNC) ENSP00000327145.8:p.Ala1922Thr
ENST00000346177.6:c.5665G>A (FLNC) ENSP00000344002.6:p.Ala1889Thr
NM_001127487.1:c.5665G>A (FLNC) NP_001120959.1:p.Ala1889Thr
NM_001458.4:c.5764G>A , LRG_870t1:c.5764G>A (FLNC) NP_001449.3:p.Ala1922Thr
NR_149055.1:n.216-50C>T (FLNC-AS1)
NM_001127487.2:c.5665G>A (FLNC) NP_001120959.1:p.Ala1889Thr
NM_001458.5:c.5764G>A (FLNC) MANE Select NP_001449.3:p.Ala1922Thr
Search 100 bp 5'
Search 100 bp 3'