Canonical Allele Identifier: CA2740094840
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 2951068
ClinVar RCV Id: RCV003802330
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128847998del , CM000669.2:g.128847998del GRCh38
NC_000007.13:g.128488052del , CM000669.1:g.128488052del GRCh37
NC_000007.12:g.128275288del NCBI36
NG_011807.1:g.22570del , LRG_870:g.22570del

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.4510del MANE Select ENSP00000327145.8:p.His1504ThrfsTer12
ENST00000325888.12:c.4510del ENSP00000327145.8:p.His1504ThrfsTer12
ENST00000346177.6:c.4510del ENSP00000344002.6:p.His1504ThrfsTer12
NM_001127487.1:c.4510del NP_001120959.1:p.His1504ThrfsTer12
NM_001458.4:c.4510del , LRG_870t1:c.4510del NP_001449.3:p.His1504ThrfsTer12
NM_001127487.2:c.4510del NP_001120959.1:p.His1504ThrfsTer12
NM_001458.5:c.4510del MANE Select NP_001449.3:p.His1504ThrfsTer12
Search 100 bp 5'
Search 100 bp 3'