Canonical Allele Identifier: CA4474482
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 539507
ClinVar RCV Id: RCV000649249
dbSNP Id: rs756806116
ExAC: 7:128481034 T / A
gnomAD v2: 7-128481034-T-A
gnomAD v3: 7-128840980-T-A
gnomAD v4: 7-128840980-T-A
MyVariant Identifiers: chr7:g.128481034T>A (hg19) chr7:g.128840980T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128840980T>A , CM000669.2:g.128840980T>A GRCh38
NC_000007.13:g.128481034T>A , CM000669.1:g.128481034T>A GRCh37
NC_000007.12:g.128268270T>A NCBI36
NG_011807.1:g.15552T>A , LRG_870:g.15552T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.1813+10T>A MANE Select ENSP00000327145.8:n.1813+10T>A
ENST00000325888.12:c.1813+10T>A ENSP00000327145.8:n.1813+10T>A
ENST00000346177.6:c.1813+10T>A ENSP00000344002.6:n.1813+10T>A
NM_001127487.1:c.1813+10T>A NP_001120959.1:n.1813+10T>A
NM_001458.4:c.1813+10T>A , LRG_870t1:c.1813+10T>A NP_001449.3:n.1813+10T>A
NM_001127487.2:c.1813+10T>A NP_001120959.1:n.1813+10T>A
NM_001458.5:c.1813+10T>A MANE Select NP_001449.3:n.1813+10T>A
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