Canonical Allele Identifier: CA369212669
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 857613
ClinVar RCV Id: RCV001063326
dbSNP Id: rs1808936908

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128853979T>C , CM000669.2:g.128853979T>C GRCh38
NC_000007.13:g.128494033T>C , CM000669.1:g.128494033T>C GRCh37
NC_000007.12:g.128281269T>C NCBI36
NG_011807.1:g.28551T>C , LRG_870:g.28551T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.6490T>C (FLNC) MANE Select ENSP00000327145.8:p.Trp2164Arg
ENST00000325888.12:c.6490T>C (FLNC) ENSP00000327145.8:p.Trp2164Arg
ENST00000346177.6:c.6391T>C (FLNC) ENSP00000344002.6:p.Trp2131Arg
NM_001127487.1:c.6391T>C (FLNC) NP_001120959.1:p.Trp2131Arg
NM_001458.4:c.6490T>C , LRG_870t1:c.6490T>C (FLNC) NP_001449.3:p.Trp2164Arg
NR_149055.1:n.103-582A>G (FLNC-AS1)
NM_001127487.2:c.6391T>C (FLNC) NP_001120959.1:p.Trp2131Arg
NM_001458.5:c.6490T>C (FLNC) MANE Select NP_001449.3:p.Trp2164Arg