Canonical Allele Identifier: CA1742564002
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 2927283
ClinVar RCV Id: RCV003781473
dbSNP Id: rs1808706517

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128849316T>A , CM000669.2:g.128849316T>A GRCh38
NC_000007.13:g.128489370T>A , CM000669.1:g.128489370T>A GRCh37
NC_000007.12:g.128276606T>A NCBI36
NG_011807.1:g.23888T>A , LRG_870:g.23888T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.4952-15T>A MANE Select ENSP00000327145.8:n.4952-15T>A
ENST00000325888.12:c.4952-15T>A ENSP00000327145.8:n.4952-15T>A
ENST00000346177.6:c.4952-15T>A ENSP00000344002.6:n.4952-15T>A
NM_001127487.1:c.4952-15T>A NP_001120959.1:n.4952-15T>A
NM_001458.4:c.4952-15T>A , LRG_870t1:c.4952-15T>A NP_001449.3:n.4952-15T>A
NM_001127487.2:c.4952-15T>A NP_001120959.1:n.4952-15T>A
NM_001458.5:c.4952-15T>A MANE Select NP_001449.3:n.4952-15T>A