Canonical Allele Identifier: CA244991
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 197063
ClinVar RCV Id: RCV000177977 RCV000724567 RCV001412157 RCV002362910
dbSNP Id: rs762017885
ExAC: 7:128493848 C / T
gnomAD v2: 7-128493848-C-T
gnomAD v4: 7-128853794-C-T
MyVariant Identifiers: chr7:g.128493848C>T (hg19) chr7:g.128853794C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128853794C>T , CM000669.2:g.128853794C>T GRCh38
NC_000007.13:g.128493848C>T , CM000669.1:g.128493848C>T GRCh37
NC_000007.12:g.128281084C>T NCBI36
NG_011807.1:g.28366C>T , LRG_870:g.28366C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.6441C>T (FLNC) MANE Select ENSP00000327145.8:p.Ile2147=
ENST00000325888.12:c.6441C>T (FLNC) ENSP00000327145.8:p.Ile2147=
ENST00000346177.6:c.6342C>T (FLNC) ENSP00000344002.6:p.Ile2114=
NM_001127487.1:c.6342C>T (FLNC) NP_001120959.1:p.Ile2114=
NM_001458.4:c.6441C>T , LRG_870t1:c.6441C>T (FLNC) NP_001449.3:p.Ile2147=
NR_149055.1:n.103-397G>A (FLNC-AS1)
NM_001127487.2:c.6342C>T (FLNC) NP_001120959.1:p.Ile2114=
NM_001458.5:c.6441C>T (FLNC) MANE Select NP_001449.3:p.Ile2147=
Search 100 bp 5'
Search 100 bp 3'