Canonical Allele Identifier: CA369208463
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 472111
COSMIC: COSM452311

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128851578G>A , CM000669.2:g.128851578G>A GRCh38
NC_000007.13:g.128491632G>A , CM000669.1:g.128491632G>A GRCh37
NC_000007.12:g.128278868G>A NCBI36
NG_011807.1:g.26150G>A , LRG_870:g.26150G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.5792G>A MANE Select ENSP00000327145.8:p.Arg1931His
ENST00000325888.12:c.5792G>A ENSP00000327145.8:p.Arg1931His
ENST00000346177.6:c.5693G>A ENSP00000344002.6:p.Arg1898His
NM_001127487.1:c.5693G>A NP_001120959.1:p.Arg1898His
NM_001458.4:c.5792G>A , LRG_870t1:c.5792G>A NP_001449.3:p.Arg1931His
NR_149055.1:n.216-78C>T
NM_001127487.2:c.5693G>A NP_001120959.1:p.Arg1898His
NM_001458.5:c.5792G>A MANE Select NP_001449.3:p.Arg1931His