Canonical Allele Identifier: CA4474713

Gene: FLNC

Linked Data

• ClinVar Variation Id: 2927901
• ClinVar RCV Id: RCV003784531
• dbSNP Id: rs759273265
• ExAC: 7:128482832 G / A
• gnomAD v2: 7-128482832-G-A
• gnomAD v3: 7-128842778-G-A
• gnomAD v4: 7-128842778-G-A
• MyVariant Identifiers: chr7:g.128482832G>A (hg19) ; chr7:g.128842778G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128842778G>A , CM000669.2:g.128842778G>A	GRCh38
NC_000007.13:g.128482832G>A , CM000669.1:g.128482832G>A	GRCh37
NC_000007.12:g.128270068G>A	NCBI36
NG_011807.1:g.17350G>A , LRG_870:g.17350G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000325888.13:c.2390-16G>A MANE Select	ENSP00000327145.8:n.2390-16G>A
ENST00000325888.12:c.2390-16G>A	ENSP00000327145.8:n.2390-16G>A
ENST00000346177.6:c.2390-16G>A	ENSP00000344002.6:n.2390-16G>A
ENST00000388853.3:n.506-16G>A
NM_001127487.1:c.2390-16G>A	NP_001120959.1:n.2390-16G>A
NM_001458.4:c.2390-16G>A , LRG_870t1:c.2390-16G>A	NP_001449.3:n.2390-16G>A
NM_001127487.2:c.2390-16G>A	NP_001120959.1:n.2390-16G>A
NM_001458.5:c.2390-16G>A MANE Select	NP_001449.3:n.2390-16G>A