Canonical Allele Identifier: CA242315
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 195741
ClinVar RCV Id: RCV000724874 RCV001084885 RCV001706129 RCV002354450 RCV003150047 RCV003907585
dbSNP Id: rs149641783
ExAC: 7:128486412 G / A
gnomAD v2: 7-128486412-G-A
gnomAD v3: 7-128846358-G-A
gnomAD v4: 7-128846358-G-A
COSMIC: COSM1580915
MyVariant Identifiers: chr7:g.128486412G>A (hg19) chr7:g.128846358G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128846358G>A , CM000669.2:g.128846358G>A GRCh38
NC_000007.13:g.128486412G>A , CM000669.1:g.128486412G>A GRCh37
NC_000007.12:g.128273648G>A NCBI36
NG_011807.1:g.20930G>A , LRG_870:g.20930G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.4022G>A MANE Select ENSP00000327145.8:p.Arg1341Gln
ENST00000325888.12:c.4022G>A ENSP00000327145.8:p.Arg1341Gln
ENST00000346177.6:c.4022G>A ENSP00000344002.6:p.Arg1341Gln
NM_001127487.1:c.4022G>A NP_001120959.1:p.Arg1341Gln
NM_001458.4:c.4022G>A , LRG_870t1:c.4022G>A NP_001449.3:p.Arg1341Gln
NM_001127487.2:c.4022G>A NP_001120959.1:p.Arg1341Gln
NM_001458.5:c.4022G>A MANE Select NP_001449.3:p.Arg1341Gln
Search 100 bp 5'
Search 100 bp 3'