Canonical Allele Identifier: CA369219802
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1303834
ClinVar RCV Id: RCV001758127
dbSNP Id: rs2128940393

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128857271T>A , CM000669.2:g.128857271T>A GRCh38
NC_000007.13:g.128497325T>A , CM000669.1:g.128497325T>A GRCh37
NC_000007.12:g.128284561T>A NCBI36
NG_011807.1:g.31843T>A , LRG_870:g.31843T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.7715T>A (FLNC) MANE Select ENSP00000327145.8:p.Leu2572His
ENST00000325888.12:c.7715T>A (FLNC) ENSP00000327145.8:p.Leu2572His
ENST00000346177.6:c.7616T>A (FLNC) ENSP00000344002.6:p.Leu2539His
NM_001127487.1:c.7616T>A (FLNC) NP_001120959.1:p.Leu2539His
NM_001458.4:c.7715T>A , LRG_870t1:c.7715T>A (FLNC) NP_001449.3:p.Leu2572His
NR_149055.1:n.103-3874A>T (FLNC-AS1)
NM_001127487.2:c.7616T>A (FLNC) NP_001120959.1:p.Leu2539His
NM_001458.5:c.7715T>A (FLNC) MANE Select NP_001449.3:p.Leu2572His