Canonical Allele Identifier: CA369208463

Gene: FLNC FLNC-AS1

Linked Data

• ClinVar Variation Id: 472111
• ClinVar RCV Id: RCV000548628 ; RCV000764687 ; RCV001755877
• dbSNP Id: rs780685346
• gnomAD v2: 7-128491632-G-A
• gnomAD v3: 7-128851578-G-A
• gnomAD v4: 7-128851578-G-A
• COSMIC: COSM452311
• MyVariant Identifiers: chr7:g.128491632G>A (hg19) ; chr7:g.128851578G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128851578G>A , CM000669.2:g.128851578G>A	GRCh38
NC_000007.13:g.128491632G>A , CM000669.1:g.128491632G>A	GRCh37
NC_000007.12:g.128278868G>A	NCBI36
NG_011807.1:g.26150G>A , LRG_870:g.26150G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.5792G>A (FLNC) MANE Select	ENSP00000327145.8:p.Arg1931His
ENST00000325888.12:c.5792G>A (FLNC)	ENSP00000327145.8:p.Arg1931His
ENST00000346177.6:c.5693G>A (FLNC)	ENSP00000344002.6:p.Arg1898His
NM_001127487.1:c.5693G>A (FLNC)	NP_001120959.1:p.Arg1898His
NM_001458.4:c.5792G>A , LRG_870t1:c.5792G>A (FLNC)	NP_001449.3:p.Arg1931His
NR_149055.1:n.216-78C>T (FLNC-AS1)
NM_001127487.2:c.5693G>A (FLNC)	NP_001120959.1:p.Arg1898His
NM_001458.5:c.5792G>A (FLNC) MANE Select	NP_001449.3:p.Arg1931His