Canonical Allele Identifier: CA369212837
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1041025
ClinVar RCV Id: RCV001344769 RCV002261351
dbSNP Id: rs1474675847
gnomAD v2: 7-128494111-C-T
gnomAD v4: 7-128854057-C-T
COSMIC: COSM3928819
MyVariant Identifiers: chr7:g.128494111C>T (hg19) chr7:g.128854057C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128854057C>T , CM000669.2:g.128854057C>T GRCh38
NC_000007.13:g.128494111C>T , CM000669.1:g.128494111C>T GRCh37
NC_000007.12:g.128281347C>T NCBI36
NG_011807.1:g.28629C>T , LRG_870:g.28629C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.6568C>T (FLNC) MANE Select ENSP00000327145.8:p.Arg2190Cys
ENST00000325888.12:c.6568C>T (FLNC) ENSP00000327145.8:p.Arg2190Cys
ENST00000346177.6:c.6469C>T (FLNC) ENSP00000344002.6:p.Arg2157Cys
NM_001127487.1:c.6469C>T (FLNC) NP_001120959.1:p.Arg2157Cys
NM_001458.4:c.6568C>T , LRG_870t1:c.6568C>T (FLNC) NP_001449.3:p.Arg2190Cys
NR_149055.1:n.103-660G>A (FLNC-AS1)
NM_001127487.2:c.6469C>T (FLNC) NP_001120959.1:p.Arg2157Cys
NM_001458.5:c.6568C>T (FLNC) MANE Select NP_001449.3:p.Arg2190Cys
Search 100 bp 5'
Search 100 bp 3'