Canonical Allele Identifier: CA369219911
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1760424
ClinVar RCV Id: RCV002400800 RCV003776436
dbSNP Id: rs1809108010
gnomAD v3: 7-128857304-T-C
gnomAD v4: 7-128857304-T-C
MyVariant Identifiers: chr7:g.128497358T>C (hg19) chr7:g.128857304T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128857304T>C , CM000669.2:g.128857304T>C GRCh38
NC_000007.13:g.128497358T>C , CM000669.1:g.128497358T>C GRCh37
NC_000007.12:g.128284594T>C NCBI36
NG_011807.1:g.31876T>C , LRG_870:g.31876T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.7748T>C (FLNC) MANE Select ENSP00000327145.8:p.Ile2583Thr
ENST00000325888.12:c.7748T>C (FLNC) ENSP00000327145.8:p.Ile2583Thr
ENST00000346177.6:c.7649T>C (FLNC) ENSP00000344002.6:p.Ile2550Thr
NM_001127487.1:c.7649T>C (FLNC) NP_001120959.1:p.Ile2550Thr
NM_001458.4:c.7748T>C , LRG_870t1:c.7748T>C (FLNC) NP_001449.3:p.Ile2583Thr
NR_149055.1:n.103-3907A>G (FLNC-AS1)
NM_001127487.2:c.7649T>C (FLNC) NP_001120959.1:p.Ile2550Thr
NM_001458.5:c.7748T>C (FLNC) MANE Select NP_001449.3:p.Ile2583Thr
Search 100 bp 5'
Search 100 bp 3'