Canonical Allele Identifier: CA369212557
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1753568
ClinVar RCV Id: RCV002361811 RCV003229087 RCV003776259
dbSNP Id: rs1301236869
gnomAD v2: 7-128493852-A-G
gnomAD v4: 7-128853798-A-G
MyVariant Identifiers: chr7:g.128493852A>G (hg19) chr7:g.128853798A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128853798A>G , CM000669.2:g.128853798A>G GRCh38
NC_000007.13:g.128493852A>G , CM000669.1:g.128493852A>G GRCh37
NC_000007.12:g.128281088A>G NCBI36
NG_011807.1:g.28370A>G , LRG_870:g.28370A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.6445A>G (FLNC) MANE Select ENSP00000327145.8:p.Thr2149Ala
ENST00000325888.12:c.6445A>G (FLNC) ENSP00000327145.8:p.Thr2149Ala
ENST00000346177.6:c.6346A>G (FLNC) ENSP00000344002.6:p.Thr2116Ala
NM_001127487.1:c.6346A>G (FLNC) NP_001120959.1:p.Thr2116Ala
NM_001458.4:c.6445A>G , LRG_870t1:c.6445A>G (FLNC) NP_001449.3:p.Thr2149Ala
NR_149055.1:n.103-401T>C (FLNC-AS1)
NM_001127487.2:c.6346A>G (FLNC) NP_001120959.1:p.Thr2116Ala
NM_001458.5:c.6445A>G (FLNC) MANE Select NP_001449.3:p.Thr2149Ala
Search 100 bp 5'
Search 100 bp 3'