Canonical Allele Identifier: CA4475793
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2441509
ClinVar RCV Id: RCV003144050
dbSNP Id: rs764747370
ExAC: 7:128491653 C / G
gnomAD v2: 7-128491653-C-G
gnomAD v4: 7-128851599-C-G
MyVariant Identifiers: chr7:g.128491653C>G (hg19) chr7:g.128851599C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128851599C>G , CM000669.2:g.128851599C>G GRCh38
NC_000007.13:g.128491653C>G , CM000669.1:g.128491653C>G GRCh37
NC_000007.12:g.128278889C>G NCBI36
NG_011807.1:g.26171C>G , LRG_870:g.26171C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.5813C>G (FLNC) MANE Select ENSP00000327145.8:p.Pro1938Arg
ENST00000325888.12:c.5813C>G (FLNC) ENSP00000327145.8:p.Pro1938Arg
ENST00000346177.6:c.5714C>G (FLNC) ENSP00000344002.6:p.Pro1905Arg
NM_001127487.1:c.5714C>G (FLNC) NP_001120959.1:p.Pro1905Arg
NM_001458.4:c.5813C>G , LRG_870t1:c.5813C>G (FLNC) NP_001449.3:p.Pro1938Arg
NR_149055.1:n.216-99G>C (FLNC-AS1)
NM_001127487.2:c.5714C>G (FLNC) NP_001120959.1:p.Pro1905Arg
NM_001458.5:c.5813C>G (FLNC) MANE Select NP_001449.3:p.Pro1938Arg
Search 100 bp 5'
Search 100 bp 3'