Canonical Allele Identifier: CA4475898
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1306938
ClinVar RCV Id: RCV001772396 RCV002032864 RCV003401681
dbSNP Id: rs761922251
ExAC: 7:128493034 G / A
gnomAD v2: 7-128493034-G-A
gnomAD v3: 7-128852980-G-A
gnomAD v4: 7-128852980-G-A
MyVariant Identifiers: chr7:g.128493034G>A (hg19) chr7:g.128852980G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128852980G>A , CM000669.2:g.128852980G>A GRCh38
NC_000007.13:g.128493034G>A , CM000669.1:g.128493034G>A GRCh37
NC_000007.12:g.128280270G>A NCBI36
NG_011807.1:g.27552G>A , LRG_870:g.27552G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.6157G>A (FLNC) MANE Select ENSP00000327145.8:p.Glu2053Lys
ENST00000325888.12:c.6157G>A (FLNC) ENSP00000327145.8:p.Glu2053Lys
ENST00000346177.6:c.6058G>A (FLNC) ENSP00000344002.6:p.Glu2020Lys
NM_001127487.1:c.6058G>A (FLNC) NP_001120959.1:p.Glu2020Lys
NM_001458.4:c.6157G>A , LRG_870t1:c.6157G>A (FLNC) NP_001449.3:p.Glu2053Lys
NR_149055.1:n.215+305C>T (FLNC-AS1)
NM_001127487.2:c.6058G>A (FLNC) NP_001120959.1:p.Glu2020Lys
NM_001458.5:c.6157G>A (FLNC) MANE Select NP_001449.3:p.Glu2053Lys
Search 100 bp 5'
Search 100 bp 3'