Canonical Allele Identifier: CA4474782
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 576720
ClinVar RCV Id: RCV001561260
dbSNP Id: rs749855792
ExAC: 7:128483292 G / A
gnomAD v2: 7-128483292-G-A
gnomAD v4: 7-128843238-G-A
COSMIC: COSM1085352
MyVariant Identifiers: chr7:g.128483292G>A (hg19) chr7:g.128843238G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128843238G>A , CM000669.2:g.128843238G>A GRCh38
NC_000007.13:g.128483292G>A , CM000669.1:g.128483292G>A GRCh37
NC_000007.12:g.128270528G>A NCBI36
NG_011807.1:g.17810G>A , LRG_870:g.17810G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.2560G>A MANE Select ENSP00000327145.8:p.Ala854Thr
ENST00000325888.12:c.2560G>A ENSP00000327145.8:p.Ala854Thr
ENST00000346177.6:c.2560G>A ENSP00000344002.6:p.Ala854Thr
NM_001127487.1:c.2560G>A NP_001120959.1:p.Ala854Thr
NM_001458.4:c.2560G>A , LRG_870t1:c.2560G>A NP_001449.3:p.Ala854Thr
NM_001127487.2:c.2560G>A NP_001120959.1:p.Ala854Thr
NM_001458.5:c.2560G>A MANE Select NP_001449.3:p.Ala854Thr
Search 100 bp 5'
Search 100 bp 3'