Canonical Allele Identifier: CA2499218733
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 1069877
ClinVar RCV Id: RCV001381844
dbSNP Id: rs2128935921
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128843282del , CM000669.2:g.128843282del GRCh38
NC_000007.13:g.128483336del , CM000669.1:g.128483336del GRCh37
NC_000007.12:g.128270572del NCBI36
NG_011807.1:g.17854del , LRG_870:g.17854del

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.2604del MANE Select ENSP00000327145.8:p.Ser868ArgfsTer10
ENST00000325888.12:c.2604del ENSP00000327145.8:p.Ser868ArgfsTer10
ENST00000346177.6:c.2604del ENSP00000344002.6:p.Ser868ArgfsTer10
NM_001127487.1:c.2604del NP_001120959.1:p.Ser868ArgfsTer10
NM_001458.4:c.2604del , LRG_870t1:c.2604del NP_001449.3:p.Ser868ArgfsTer10
NM_001127487.2:c.2604del NP_001120959.1:p.Ser868ArgfsTer10
NM_001458.5:c.2604del MANE Select NP_001449.3:p.Ser868ArgfsTer10
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