Canonical Allele Identifier: CA369225796
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 539386
ClinVar RCV Id: RCV000649114

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128840128G>A , CM000669.2:g.128840128G>A GRCh38
NC_000007.13:g.128480182G>A , CM000669.1:g.128480182G>A GRCh37
NC_000007.12:g.128267418G>A NCBI36
NG_011807.1:g.14700G>A , LRG_870:g.14700G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.1517G>A MANE Select ENSP00000327145.8:p.Ser506Asn
ENST00000325888.12:c.1517G>A ENSP00000327145.8:p.Ser506Asn
ENST00000346177.6:c.1517G>A ENSP00000344002.6:p.Ser506Asn
NM_001127487.1:c.1517G>A NP_001120959.1:p.Ser506Asn
NM_001458.4:c.1517G>A , LRG_870t1:c.1517G>A NP_001449.3:p.Ser506Asn
NM_001127487.2:c.1517G>A NP_001120959.1:p.Ser506Asn
NM_001458.5:c.1517G>A MANE Select NP_001449.3:p.Ser506Asn