Canonical Allele Identifier: CA4476424

Gene: FLNC FLNC-AS1

Linked Data

• ClinVar Variation Id: 752113
• ClinVar RCV Id: RCV000929233 ; RCV002416164 ; RCV003145236
• dbSNP Id: rs765388755
• ExAC: 7:128498479 G / A
• gnomAD v2: 7-128498479-G-A
• gnomAD v3: 7-128858425-G-A
• gnomAD v4: 7-128858425-G-A
• MyVariant Identifiers: chr7:g.128498479G>A (hg19) ; chr7:g.128858425G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128858425G>A , CM000669.2:g.128858425G>A	GRCh38
NC_000007.13:g.128498479G>A , CM000669.1:g.128498479G>A	GRCh37
NC_000007.12:g.128285715G>A	NCBI36
NG_011807.1:g.32997G>A , LRG_870:g.32997G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.8080G>A (FLNC) MANE Select	ENSP00000327145.8:p.Val2694Ile
ENST00000325888.12:c.8080G>A (FLNC)	ENSP00000327145.8:p.Val2694Ile
ENST00000346177.6:c.7981G>A (FLNC)	ENSP00000344002.6:p.Val2661Ile
NM_001127487.1:c.7981G>A (FLNC)	NP_001120959.1:p.Val2661Ile
NM_001458.4:c.8080G>A , LRG_870t1:c.8080G>A (FLNC)	NP_001449.3:p.Val2694Ile
NR_149055.1:n.102+4100C>T (FLNC-AS1)
NM_001127487.2:c.7981G>A (FLNC)	NP_001120959.1:p.Val2661Ile
NM_001458.5:c.8080G>A (FLNC) MANE Select	NP_001449.3:p.Val2694Ile