Canonical Allele Identifier: CA369214072
Community Standard Title: NM_001458.5(FLNC):c.6889G>A (p.Val2297Met)
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128854574G>A , CM000669.2:g.128854574G>A GRCh38
NC_000007.13:g.128494628G>A , CM000669.1:g.128494628G>A GRCh37
NC_000007.12:g.128281864G>A NCBI36
NG_011807.1:g.29146G>A , LRG_870:g.29146G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001458.5:c.6889G>A (FLNC) MANE Select NP_001449.3:p.Val2297Met
ENST00000325888.13:c.6889G>A (FLNC) MANE Select ENSP00000327145.8:p.Val2297Met
NM_001127487.1:c.6790G>A (FLNC) NP_001120959.1:p.Val2264Met
NM_001127487.2:c.6790G>A (FLNC) NP_001120959.1:p.Val2264Met
NM_001458.4:c.6889G>A , LRG_870t1:c.6889G>A (FLNC) NP_001449.3:p.Val2297Met
NR_149055.1:n.103-1177C>T (FLNC-AS1)
ENST00000325888.12:c.6889G>A (FLNC) ENSP00000327145.8:p.Val2297Met
ENST00000346177.6:c.6790G>A (FLNC) ENSP00000344002.6:p.Val2264Met