Canonical Allele Identifier: CA4474532
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 471992
ClinVar RCV Id: RCV000542255 RCV002491077 RCV002413600 RCV003144348
dbSNP Id: rs765300084
ExAC: 7:128481342 TGAC / T
gnomAD v2: 7-128481342-TGAC-T
gnomAD v3: 7-128841288-TGAC-T
gnomAD v4: 7-128841288-TGAC-T
MyVariant Identifiers: chr7:g.128481345_128481347del (hg19) chr7:g.128481343_128481345del (hg19) chr7:g.128841291_128841293del (hg38) chr7:g.128841290_128841292del (hg38) chr7:g.128841289_128841291del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128841291_128841293del , CM000669.2:g.128841291_128841293del GRCh38
NC_000007.13:g.128481345_128481347del , CM000669.1:g.128481345_128481347del GRCh37
NC_000007.12:g.128268581_128268583del NCBI36
NG_011807.1:g.15863_15865del , LRG_870:g.15863_15865del

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.1935_1937del MANE Select ENSP00000327145.8:p.Asp646del
ENST00000325888.12:c.1935_1937del ENSP00000327145.8:p.Asp646del
ENST00000346177.6:c.1935_1937del ENSP00000344002.6:p.Asp646del
NM_001127487.1:c.1935_1937del NP_001120959.1:p.Asp646del
NM_001458.4:c.1935_1937del , LRG_870t1:c.1935_1937del NP_001449.3:p.Asp646del
NM_001127487.2:c.1935_1937del NP_001120959.1:p.Asp646del
NM_001458.5:c.1935_1937del MANE Select NP_001449.3:p.Asp646del
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