Canonical Allele Identifier: CA891843001
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 566018
ClinVar RCV Id: RCV000685726 RCV004026209 RCV003226966 RCV003237321
dbSNP Id: rs1563006160
gnomAD v2: 7-128498502-AG-A
gnomAD v3: 7-128858448-AG-A
gnomAD v4: 7-128858448-AG-A
MyVariant Identifiers: chr7:g.128498506del (hg19) chr7:g.128858452del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128858452del , CM000669.2:g.128858452del GRCh38
NC_000007.13:g.128498506del , CM000669.1:g.128498506del GRCh37
NC_000007.12:g.128285742del NCBI36
NG_011807.1:g.33024del , LRG_870:g.33024del

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.8107del (FLNC) MANE Select ENSP00000327145.8:p.Asp2703ThrfsTer?
ENST00000325888.12:c.8107del (FLNC) ENSP00000327145.8:p.Asp2703ThrfsTer?
ENST00000346177.6:c.8008del (FLNC) ENSP00000344002.6:p.Asp2670ThrfsTer?
NM_001127487.1:c.8008del (FLNC) NP_001120959.1:p.Asp2670ThrfsTer?
NM_001458.4:c.8107del , LRG_870t1:c.8107del (FLNC) NP_001449.3:p.Asp2703ThrfsTer?
NR_149055.1:n.102+4076del (FLNC-AS1)
NM_001127487.2:c.8008del (FLNC) NP_001120959.1:p.Asp2670ThrfsTer?
NM_001458.5:c.8107del (FLNC) MANE Select NP_001449.3:p.Asp2703ThrfsTer?
Search 100 bp 5'
Search 100 bp 3'