Canonical Allele Identifier: CA369212823
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2441508
ClinVar RCV Id: RCV003144049

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128854049G>T , CM000669.2:g.128854049G>T GRCh38
NC_000007.13:g.128494103G>T , CM000669.1:g.128494103G>T GRCh37
NC_000007.12:g.128281339G>T NCBI36
NG_011807.1:g.28621G>T , LRG_870:g.28621G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.6560G>T (FLNC) MANE Select ENSP00000327145.8:p.Arg2187Leu
ENST00000325888.12:c.6560G>T (FLNC) ENSP00000327145.8:p.Arg2187Leu
ENST00000346177.6:c.6461G>T (FLNC) ENSP00000344002.6:p.Arg2154Leu
NM_001127487.1:c.6461G>T (FLNC) NP_001120959.1:p.Arg2154Leu
NM_001458.4:c.6560G>T , LRG_870t1:c.6560G>T (FLNC) NP_001449.3:p.Arg2187Leu
NR_149055.1:n.103-652C>A (FLNC-AS1)
NM_001127487.2:c.6461G>T (FLNC) NP_001120959.1:p.Arg2154Leu
NM_001458.5:c.6560G>T (FLNC) MANE Select NP_001449.3:p.Arg2187Leu