Canonical Allele Identifier: CA4475773
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1017992
ClinVar RCV Id: RCV001317230 RCV001587337 RCV002350582
dbSNP Id: rs751937921
ExAC: 7:128491598 C / A
gnomAD v2: 7-128491598-C-A
gnomAD v3: 7-128851544-C-A
gnomAD v4: 7-128851544-C-A
MyVariant Identifiers: chr7:g.128491598C>A (hg19) chr7:g.128851544C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128851544C>A , CM000669.2:g.128851544C>A GRCh38
NC_000007.13:g.128491598C>A , CM000669.1:g.128491598C>A GRCh37
NC_000007.12:g.128278834C>A NCBI36
NG_011807.1:g.26116C>A , LRG_870:g.26116C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.5758C>A (FLNC) MANE Select ENSP00000327145.8:p.Pro1920Thr
ENST00000325888.12:c.5758C>A (FLNC) ENSP00000327145.8:p.Pro1920Thr
ENST00000346177.6:c.5659C>A (FLNC) ENSP00000344002.6:p.Pro1887Thr
NM_001127487.1:c.5659C>A (FLNC) NP_001120959.1:p.Pro1887Thr
NM_001458.4:c.5758C>A , LRG_870t1:c.5758C>A (FLNC) NP_001449.3:p.Pro1920Thr
NR_149055.1:n.216-44G>T (FLNC-AS1)
NM_001127487.2:c.5659C>A (FLNC) NP_001120959.1:p.Pro1887Thr
NM_001458.5:c.5758C>A (FLNC) MANE Select NP_001449.3:p.Pro1920Thr
Search 100 bp 5'
Search 100 bp 3'