Canonical Allele Identifier: CA369203740
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 1518427
ClinVar RCV Id: RCV002021738 RCV002337160
dbSNP Id: rs1808699932
gnomAD v4: 7-128849184-C-G
MyVariant Identifiers: chr7:g.128489238C>G (hg19) chr7:g.128849184C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128849184C>G , CM000669.2:g.128849184C>G GRCh38
NC_000007.13:g.128489238C>G , CM000669.1:g.128489238C>G GRCh37
NC_000007.12:g.128276474C>G NCBI36
NG_011807.1:g.23756C>G , LRG_870:g.23756C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.4931C>G MANE Select ENSP00000327145.8:p.Ser1644Cys
ENST00000325888.12:c.4931C>G ENSP00000327145.8:p.Ser1644Cys
ENST00000346177.6:c.4931C>G ENSP00000344002.6:p.Ser1644Cys
NM_001127487.1:c.4931C>G NP_001120959.1:p.Ser1644Cys
NM_001458.4:c.4931C>G , LRG_870t1:c.4931C>G NP_001449.3:p.Ser1644Cys
NM_001127487.2:c.4931C>G NP_001120959.1:p.Ser1644Cys
NM_001458.5:c.4931C>G MANE Select NP_001449.3:p.Ser1644Cys
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