Canonical Allele Identifier: CA658797013

Gene: FLNC FLNC-AS1

Linked Data

• ClinVar Variation Id: 539431
• ClinVar RCV Id: RCV000649165 ; RCV002485459 ; RCV003162969
• dbSNP Id: rs1312829675
• gnomAD v4: 7-128850850-GACA-G
• MyVariant Identifiers: chr7:g.128490909_128490911del (hg19) ; chr7:g.128490905_128490907del (hg19) ; chr7:g.128850855_128850857del (hg38) ; chr7:g.128850851_128850853del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128850855_128850857del , CM000669.2:g.128850855_128850857del	GRCh38
NC_000007.13:g.128490909_128490911del , CM000669.1:g.128490909_128490911del	GRCh37
NC_000007.12:g.128278145_128278147del	NCBI36
NG_011807.1:g.25427_25429del , LRG_870:g.25427_25429del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.5451_5453del (FLNC) MANE Select	ENSP00000327145.8:p.Asn1817del
ENST00000325888.12:c.5451_5453del (FLNC)	ENSP00000327145.8:p.Asn1817del
ENST00000346177.6:c.5352_5354del (FLNC)	ENSP00000344002.6:p.Asn1784del
NM_001127487.1:c.5352_5354del (FLNC)	NP_001120959.1:p.Asn1784del
NM_001458.4:c.5451_5453del , LRG_870t1:c.5451_5453del (FLNC)	NP_001449.3:p.Asn1817del
NR_149055.1:n.316-448_316-446del (FLNC-AS1)
NM_001127487.2:c.5352_5354del (FLNC)	NP_001120959.1:p.Asn1784del
NM_001458.5:c.5451_5453del (FLNC) MANE Select	NP_001449.3:p.Asn1817del