Canonical Allele Identifier: CA369212671
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1457130
ClinVar RCV Id: RCV001953594
dbSNP Id: rs2128939246

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128853980G>A , CM000669.2:g.128853980G>A GRCh38
NC_000007.13:g.128494034G>A , CM000669.1:g.128494034G>A GRCh37
NC_000007.12:g.128281270G>A NCBI36
NG_011807.1:g.28552G>A , LRG_870:g.28552G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.6491G>A (FLNC) MANE Select ENSP00000327145.8:p.Trp2164Ter
ENST00000325888.12:c.6491G>A (FLNC) ENSP00000327145.8:p.Trp2164Ter
ENST00000346177.6:c.6392G>A (FLNC) ENSP00000344002.6:p.Trp2131Ter
NM_001127487.1:c.6392G>A (FLNC) NP_001120959.1:p.Trp2131Ter
NM_001458.4:c.6491G>A , LRG_870t1:c.6491G>A (FLNC) NP_001449.3:p.Trp2164Ter
NR_149055.1:n.103-583C>T (FLNC-AS1)
NM_001127487.2:c.6392G>A (FLNC) NP_001120959.1:p.Trp2131Ter
NM_001458.5:c.6491G>A (FLNC) MANE Select NP_001449.3:p.Trp2164Ter