Canonical Allele Identifier: CA457579449
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 797991
ClinVar RCV Id: RCV000981484
dbSNP Id: rs1585160512
MyVariant Identifiers: chr7:g.128485302G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128845248G>A , CM000669.2:g.128845248G>A GRCh38
NC_000007.13:g.128485302G>A , CM000669.1:g.128485302G>A GRCh37
NC_000007.12:g.128272538G>A NCBI36
NG_011807.1:g.19820G>A , LRG_870:g.19820G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.3783G>A MANE Select ENSP00000327145.8:p.Glu1261=
ENST00000325888.12:c.3783G>A ENSP00000327145.8:p.Glu1261=
ENST00000346177.6:c.3783G>A ENSP00000344002.6:p.Glu1261=
NM_001127487.1:c.3783G>A NP_001120959.1:p.Glu1261=
NM_001458.4:c.3783G>A , LRG_870t1:c.3783G>A NP_001449.3:p.Glu1261=
NM_001127487.2:c.3783G>A NP_001120959.1:p.Glu1261=
NM_001458.5:c.3783G>A MANE Select NP_001449.3:p.Glu1261=
Search 100 bp 5'
Search 100 bp 3'