Canonical Allele Identifier: CA166191053
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 581430
ClinVar RCV Id: RCV000705249
dbSNP Id: rs376885778
gnomAD v2: 7-128494069-C-T
gnomAD v4: 7-128854015-C-T
MyVariant Identifiers: chr7:g.128494069C>T (hg19) chr7:g.128854015C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128854015C>T , CM000669.2:g.128854015C>T GRCh38
NC_000007.13:g.128494069C>T , CM000669.1:g.128494069C>T GRCh37
NC_000007.12:g.128281305C>T NCBI36
NG_011807.1:g.28587C>T , LRG_870:g.28587C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.6526C>T (FLNC) MANE Select ENSP00000327145.8:p.Arg2176Cys
ENST00000325888.12:c.6526C>T (FLNC) ENSP00000327145.8:p.Arg2176Cys
ENST00000346177.6:c.6427C>T (FLNC) ENSP00000344002.6:p.Arg2143Cys
NM_001127487.1:c.6427C>T (FLNC) NP_001120959.1:p.Arg2143Cys
NM_001458.4:c.6526C>T , LRG_870t1:c.6526C>T (FLNC) NP_001449.3:p.Arg2176Cys
NR_149055.1:n.103-618G>A (FLNC-AS1)
NM_001127487.2:c.6427C>T (FLNC) NP_001120959.1:p.Arg2143Cys
NM_001458.5:c.6526C>T (FLNC) MANE Select NP_001449.3:p.Arg2176Cys
Search 100 bp 5'
Search 100 bp 3'