Canonical Allele Identifier: CA4476221

Gene: FLNC FLNC-AS1

Linked Data

• ClinVar Variation Id: 388691
• ClinVar RCV Id: RCV000530793 ; RCV001704479 ; RCV002379359
• dbSNP Id: rs186451916
• ExAC: 7:128496601 G / A
• gnomAD v2: 7-128496601-G-A
• gnomAD v3: 7-128856547-G-A
• gnomAD v4: 7-128856547-G-A
• MyVariant Identifiers: chr7:g.128496601G>A (hg19) ; chr7:g.128856547G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128856547G>A , CM000669.2:g.128856547G>A	GRCh38
NC_000007.13:g.128496601G>A , CM000669.1:g.128496601G>A	GRCh37
NC_000007.12:g.128283837G>A	NCBI36
NG_011807.1:g.31119G>A , LRG_870:g.31119G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000325888.13:c.7281G>A (FLNC) MANE Select	ENSP00000327145.8:p.Ala2427=
ENST00000325888.12:c.7281G>A (FLNC)	ENSP00000327145.8:p.Ala2427=
ENST00000346177.6:c.7182G>A (FLNC)	ENSP00000344002.6:p.Ala2394=
NM_001127487.1:c.7182G>A (FLNC)	NP_001120959.1:p.Ala2394=
NM_001458.4:c.7281G>A , LRG_870t1:c.7281G>A (FLNC)	NP_001449.3:p.Ala2427=
NR_149055.1:n.103-3150C>T (FLNC-AS1)
NM_001127487.2:c.7182G>A (FLNC)	NP_001120959.1:p.Ala2394=
NM_001458.5:c.7281G>A (FLNC) MANE Select	NP_001449.3:p.Ala2427=