Canonical Allele Identifier: CA4475311

Gene: FLNC

Linked Data

• ClinVar Variation Id: 391107
• ClinVar RCV Id: RCV000422534 ; RCV000711686 ; RCV001080257 ; RCV002328991
• dbSNP Id: rs114697352
• ExAC: 7:128487764 C / T
• gnomAD v2: 7-128487764-C-T
• gnomAD v3: 7-128847710-C-T
• gnomAD v4: 7-128847710-C-T
• COSMIC: COSM3781261
• MyVariant Identifiers: chr7:g.128487764C>T (hg19) ; chr7:g.128847710C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128847710C>T , CM000669.2:g.128847710C>T	GRCh38
NC_000007.13:g.128487764C>T , CM000669.1:g.128487764C>T	GRCh37
NC_000007.12:g.128275000C>T	NCBI36
NG_011807.1:g.22282C>T , LRG_870:g.22282C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000325888.13:c.4302C>T MANE Select	ENSP00000327145.8:p.Arg1434=
ENST00000325888.12:c.4302C>T	ENSP00000327145.8:p.Arg1434=
ENST00000346177.6:c.4302C>T	ENSP00000344002.6:p.Arg1434=
NM_001127487.1:c.4302C>T	NP_001120959.1:p.Arg1434=
NM_001458.4:c.4302C>T , LRG_870t1:c.4302C>T	NP_001449.3:p.Arg1434=
NM_001127487.2:c.4302C>T	NP_001120959.1:p.Arg1434=
NM_001458.5:c.4302C>T MANE Select	NP_001449.3:p.Arg1434=