Canonical Allele Identifier: CA4474485
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 1936388
ClinVar RCV Id: RCV002658003
dbSNP Id: rs375765571
ExAC: 7:128481040 G / A
gnomAD v2: 7-128481040-G-A
gnomAD v4: 7-128840986-G-A
MyVariant Identifiers: chr7:g.128481040G>A (hg19) chr7:g.128840986G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128840986G>A , CM000669.2:g.128840986G>A GRCh38
NC_000007.13:g.128481040G>A , CM000669.1:g.128481040G>A GRCh37
NC_000007.12:g.128268276G>A NCBI36
NG_011807.1:g.15558G>A , LRG_870:g.15558G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.1813+16G>A MANE Select ENSP00000327145.8:n.1813+16G>A
ENST00000325888.12:c.1813+16G>A ENSP00000327145.8:n.1813+16G>A
ENST00000346177.6:c.1813+16G>A ENSP00000344002.6:n.1813+16G>A
NM_001127487.1:c.1813+16G>A NP_001120959.1:n.1813+16G>A
NM_001458.4:c.1813+16G>A , LRG_870t1:c.1813+16G>A NP_001449.3:n.1813+16G>A
NM_001127487.2:c.1813+16G>A NP_001120959.1:n.1813+16G>A
NM_001458.5:c.1813+16G>A MANE Select NP_001449.3:n.1813+16G>A
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