Canonical Allele Identifier: CA2573141715

Gene: FLNC

Linked Data

• ClinVar Variation Id: 1540520
• ClinVar RCV Id: RCV002155078
• dbSNP Id: rs78086167
• gnomAD v4: 7-128842781-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128842781C>G , CM000669.2:g.128842781C>G	GRCh38
NC_000007.13:g.128482835C>G , CM000669.1:g.128482835C>G	GRCh37
NC_000007.12:g.128270071C>G	NCBI36
NG_011807.1:g.17353C>G , LRG_870:g.17353C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000325888.13:c.2390-13C>G MANE Select	ENSP00000327145.8:n.2390-13C>G
ENST00000325888.12:c.2390-13C>G	ENSP00000327145.8:n.2390-13C>G
ENST00000346177.6:c.2390-13C>G	ENSP00000344002.6:n.2390-13C>G
ENST00000388853.3:n.506-13C>G
NM_001127487.1:c.2390-13C>G	NP_001120959.1:n.2390-13C>G
NM_001458.4:c.2390-13C>G , LRG_870t1:c.2390-13C>G	NP_001449.3:n.2390-13C>G
NM_001127487.2:c.2390-13C>G	NP_001120959.1:n.2390-13C>G
NM_001458.5:c.2390-13C>G MANE Select	NP_001449.3:n.2390-13C>G