Canonical Allele Identifier: CA4474716
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 1218487
ClinVar RCV Id: RCV001592329 RCV002072347
dbSNP Id: rs374233889
ExAC: 7:128482836 G / A
gnomAD v2: 7-128482836-G-A
gnomAD v3: 7-128842782-G-A
gnomAD v4: 7-128842782-G-A
MyVariant Identifiers: chr7:g.128482836G>A (hg19) chr7:g.128842782G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128842782G>A , CM000669.2:g.128842782G>A GRCh38
NC_000007.13:g.128482836G>A , CM000669.1:g.128482836G>A GRCh37
NC_000007.12:g.128270072G>A NCBI36
NG_011807.1:g.17354G>A , LRG_870:g.17354G>A

Transcript Alleles

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