Canonical Allele Identifier: CA916082319
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 860643
ClinVar RCV Id: RCV001066987
dbSNP Id: rs1808318504
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128841200dup , CM000669.2:g.128841200dup GRCh38
NC_000007.13:g.128481254dup , CM000669.1:g.128481254dup GRCh37
NC_000007.12:g.128268490dup NCBI36
NG_011807.1:g.15772dup , LRG_870:g.15772dup

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.1844dup MANE Select ENSP00000327145.8:p.Ile616AspfsTer4
ENST00000325888.12:c.1844dup ENSP00000327145.8:p.Ile616AspfsTer4
ENST00000346177.6:c.1844dup ENSP00000344002.6:p.Ile616AspfsTer4
NM_001127487.1:c.1844dup NP_001120959.1:p.Ile616AspfsTer4
NM_001458.4:c.1844dup , LRG_870t1:c.1844dup NP_001449.3:p.Ile616AspfsTer4
NM_001127487.2:c.1844dup NP_001120959.1:p.Ile616AspfsTer4
NM_001458.5:c.1844dup MANE Select NP_001449.3:p.Ile616AspfsTer4
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Search 100 bp 3'