Canonical Allele Identifier: CA1742578655

Gene: FLNC FLNC-AS1

Linked Data

• ClinVar Variation Id: 1754123
• ClinVar RCV Id: RCV002364334 ; RCV003776278
• dbSNP Id: rs1808940115

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128854033_128854035del , CM000669.2:g.128854033_128854035del	GRCh38
NC_000007.13:g.128494087_128494089del , CM000669.1:g.128494087_128494089del	GRCh37
NC_000007.12:g.128281323_128281325del	NCBI36
NG_011807.1:g.28605_28607del , LRG_870:g.28605_28607del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.6544_6546del (FLNC) MANE Select	ENSP00000327145.8:p.Ser2182del
ENST00000325888.12:c.6544_6546del (FLNC)	ENSP00000327145.8:p.Ser2182del
ENST00000346177.6:c.6445_6447del (FLNC)	ENSP00000344002.6:p.Ser2149del
NM_001127487.1:c.6445_6447del (FLNC)	NP_001120959.1:p.Ser2149del
NM_001458.4:c.6544_6546del , LRG_870t1:c.6544_6546del (FLNC)	NP_001449.3:p.Ser2182del
NR_149055.1:n.103-633_103-631del (FLNC-AS1)
NM_001127487.2:c.6445_6447del (FLNC)	NP_001120959.1:p.Ser2149del
NM_001458.5:c.6544_6546del (FLNC) MANE Select	NP_001449.3:p.Ser2182del