Canonical Allele Identifier: CA152862

Gene: FLNC

Linked Data

• ClinVar Variation Id: 129090
• ClinVar RCV Id: RCV000117075 ; RCV000711688 ; RCV001520070 ; RCV002326813
• dbSNP Id: rs2291568
• ExAC: 7:128487893 G / A
• gnomAD v2: 7-128487893-G-A
• gnomAD v3: 7-128847839-G-A
• gnomAD v4: 7-128847839-G-A
• MyVariant Identifiers: chr7:g.128487893G>A (hg19) ; chr7:g.128847839G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128847839G>A , CM000669.2:g.128847839G>A	GRCh38
NC_000007.13:g.128487893G>A , CM000669.1:g.128487893G>A	GRCh37
NC_000007.12:g.128275129G>A	NCBI36
NG_011807.1:g.22411G>A , LRG_870:g.22411G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000325888.13:c.4431G>A MANE Select	ENSP00000327145.8:p.Leu1477=
ENST00000325888.12:c.4431G>A	ENSP00000327145.8:p.Leu1477=
ENST00000346177.6:c.4431G>A	ENSP00000344002.6:p.Leu1477=
NM_001127487.1:c.4431G>A	NP_001120959.1:p.Leu1477=
NM_001458.4:c.4431G>A , LRG_870t1:c.4431G>A	NP_001449.3:p.Leu1477=
NM_001127487.2:c.4431G>A	NP_001120959.1:p.Leu1477=
NM_001458.5:c.4431G>A MANE Select	NP_001449.3:p.Leu1477=