Canonical Allele Identifier: CA2499218737
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 1183971
ClinVar RCV Id: RCV001541903 RCV003771662
dbSNP Id: rs2128936386
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128844772_128844778del , CM000669.2:g.128844772_128844778del GRCh38
NC_000007.13:g.128484826_128484832del , CM000669.1:g.128484826_128484832del GRCh37
NC_000007.12:g.128272062_128272068del NCBI36
NG_011807.1:g.19344_19350del , LRG_870:g.19344_19350del

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.3307_3313del MANE Select ENSP00000327145.8:p.Cys1103ProfsTer?
ENST00000325888.12:c.3307_3313del ENSP00000327145.8:p.Cys1103ProfsTer?
ENST00000346177.6:c.3307_3313del ENSP00000344002.6:p.Cys1103ProfsTer?
NM_001127487.1:c.3307_3313del NP_001120959.1:p.Cys1103ProfsTer?
NM_001458.4:c.3307_3313del , LRG_870t1:c.3307_3313del NP_001449.3:p.Cys1103ProfsTer?
NM_001127487.2:c.3307_3313del NP_001120959.1:p.Cys1103ProfsTer?
NM_001458.5:c.3307_3313del MANE Select NP_001449.3:p.Cys1103ProfsTer?
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Search 100 bp 3'