Canonical Allele Identifier: CA4475982
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2942560
ClinVar RCV Id: RCV003807726
dbSNP Id: rs752213147

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128853825C>T , CM000669.2:g.128853825C>T GRCh38
NC_000007.13:g.128493879C>T , CM000669.1:g.128493879C>T GRCh37
NC_000007.12:g.128281115C>T NCBI36
NG_011807.1:g.28397C>T , LRG_870:g.28397C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.6472C>T (FLNC) MANE Select ENSP00000327145.8:p.Leu2158Phe
ENST00000325888.12:c.6472C>T (FLNC) ENSP00000327145.8:p.Leu2158Phe
ENST00000346177.6:c.6373C>T (FLNC) ENSP00000344002.6:p.Leu2125Phe
NM_001127487.1:c.6373C>T (FLNC) NP_001120959.1:p.Leu2125Phe
NM_001458.4:c.6472C>T , LRG_870t1:c.6472C>T (FLNC) NP_001449.3:p.Leu2158Phe
NR_149055.1:n.103-428G>A (FLNC-AS1)
NM_001127487.2:c.6373C>T (FLNC) NP_001120959.1:p.Leu2125Phe
NM_001458.5:c.6472C>T (FLNC) MANE Select NP_001449.3:p.Leu2158Phe