Canonical Allele Identifier: CA916082327
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 862793
ClinVar RCV Id: RCV001069589
dbSNP Id: rs1809103569
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128857216del , CM000669.2:g.128857216del GRCh38
NC_000007.13:g.128497270del , CM000669.1:g.128497270del GRCh37
NC_000007.12:g.128284506del NCBI36
NG_011807.1:g.31788del , LRG_870:g.31788del

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.7660del (FLNC) MANE Select ENSP00000327145.8:p.Glu2554SerfsTer?
ENST00000325888.12:c.7660del (FLNC) ENSP00000327145.8:p.Glu2554SerfsTer?
ENST00000346177.6:c.7561del (FLNC) ENSP00000344002.6:p.Glu2521SerfsTer?
NM_001127487.1:c.7561del (FLNC) NP_001120959.1:p.Glu2521SerfsTer?
NM_001458.4:c.7660del , LRG_870t1:c.7660del (FLNC) NP_001449.3:p.Glu2554SerfsTer?
NR_149055.1:n.103-3817del (FLNC-AS1)
NM_001127487.2:c.7561del (FLNC) NP_001120959.1:p.Glu2521SerfsTer?
NM_001458.5:c.7660del (FLNC) MANE Select NP_001449.3:p.Glu2554SerfsTer?
Search 100 bp 5'
Search 100 bp 3'