Canonical Allele Identifier: CA4475691

Gene: FLNC FLNC-AS1

Linked Data

• ClinVar Variation Id: 290873
• ClinVar RCV Id: RCV000339649 ; RCV001699335 ; RCV001080768 ; RCV002348027
• dbSNP Id: rs376078394
• ExAC: 7:128490876 G / A
• gnomAD v2: 7-128490876-G-A
• gnomAD v3: 7-128850822-G-A
• gnomAD v4: 7-128850822-G-A
• MyVariant Identifiers: chr7:g.128490876G>A (hg19) ; chr7:g.128850822G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128850822G>A , CM000669.2:g.128850822G>A	GRCh38
NC_000007.13:g.128490876G>A , CM000669.1:g.128490876G>A	GRCh37
NC_000007.12:g.128278112G>A	NCBI36
NG_011807.1:g.25394G>A , LRG_870:g.25394G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.5418G>A (FLNC) MANE Select	ENSP00000327145.8:p.Ser1806=
ENST00000325888.12:c.5418G>A (FLNC)	ENSP00000327145.8:p.Ser1806=
ENST00000346177.6:c.5319G>A (FLNC)	ENSP00000344002.6:p.Ser1773=
NM_001127487.1:c.5319G>A (FLNC)	NP_001120959.1:p.Ser1773=
NM_001458.4:c.5418G>A , LRG_870t1:c.5418G>A (FLNC)	NP_001449.3:p.Ser1806=
NR_149055.1:n.316-417C>T (FLNC-AS1)
NM_001127487.2:c.5319G>A (FLNC)	NP_001120959.1:p.Ser1773=
NM_001458.5:c.5418G>A (FLNC) MANE Select	NP_001449.3:p.Ser1806=