Canonical Allele Identifier: CA369222188
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1473982
ClinVar RCV Id: RCV001969667
dbSNP Id: rs2128940727

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128858508A>T , CM000669.2:g.128858508A>T GRCh38
NC_000007.13:g.128498562A>T , CM000669.1:g.128498562A>T GRCh37
NC_000007.12:g.128285798A>T NCBI36
NG_011807.1:g.33080A>T , LRG_870:g.33080A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.8163A>T (FLNC) MANE Select ENSP00000327145.8:p.Lys2721Asn
ENST00000325888.12:c.8163A>T (FLNC) ENSP00000327145.8:p.Lys2721Asn
ENST00000346177.6:c.8064A>T (FLNC) ENSP00000344002.6:p.Lys2688Asn
NM_001127487.1:c.8064A>T (FLNC) NP_001120959.1:p.Lys2688Asn
NM_001458.4:c.8163A>T , LRG_870t1:c.8163A>T (FLNC) NP_001449.3:p.Lys2721Asn
NR_149055.1:n.102+4017T>A (FLNC-AS1)
NM_001127487.2:c.8064A>T (FLNC) NP_001120959.1:p.Lys2688Asn
NM_001458.5:c.8163A>T (FLNC) MANE Select NP_001449.3:p.Lys2721Asn