Canonical Allele Identifier: CA2499218738
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 1068841
ClinVar RCV Id: RCV001380511
dbSNP Id: rs2128936516

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128845167del , CM000669.2:g.128845167del GRCh38
NC_000007.13:g.128485221del , CM000669.1:g.128485221del GRCh37
NC_000007.12:g.128272457del NCBI36
NG_011807.1:g.19739del , LRG_870:g.19739del

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.3702del MANE Select ENSP00000327145.8:p.Val1235CysfsTer?
ENST00000325888.12:c.3702del ENSP00000327145.8:p.Val1235CysfsTer?
ENST00000346177.6:c.3702del ENSP00000344002.6:p.Val1235CysfsTer?
NM_001127487.1:c.3702del NP_001120959.1:p.Val1235CysfsTer?
NM_001458.4:c.3702del , LRG_870t1:c.3702del NP_001449.3:p.Val1235CysfsTer?
NM_001127487.2:c.3702del NP_001120959.1:p.Val1235CysfsTer?
NM_001458.5:c.3702del MANE Select NP_001449.3:p.Val1235CysfsTer?