Canonical Allele Identifier: CA4474931
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 258139
dbSNP Id: rs184454068

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128844074T>C , CM000669.2:g.128844074T>C GRCh38
NC_000007.13:g.128484128T>C , CM000669.1:g.128484128T>C GRCh37
NC_000007.12:g.128271364T>C NCBI36
NG_011807.1:g.18646T>C , LRG_870:g.18646T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.3000T>C MANE Select ENSP00000327145.8:p.Asp1000=
ENST00000325888.12:c.3000T>C ENSP00000327145.8:p.Asp1000=
ENST00000346177.6:c.3000T>C ENSP00000344002.6:p.Asp1000=
NM_001127487.1:c.3000T>C NP_001120959.1:p.Asp1000=
NM_001458.4:c.3000T>C , LRG_870t1:c.3000T>C NP_001449.3:p.Asp1000=
NM_001127487.2:c.3000T>C NP_001120959.1:p.Asp1000=
NM_001458.5:c.3000T>C MANE Select NP_001449.3:p.Asp1000=