Canonical Allele Identifier: CA166183270
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 574130
ClinVar RCV Id: RCV000695976 RCV002477579 RCV004026356
dbSNP Id: rs71581926
gnomAD v3: 7-128847962-G-A
gnomAD v4: 7-128847962-G-A
MyVariant Identifiers: chr7:g.128488016G>A (hg19) chr7:g.128847962G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128847962G>A , CM000669.2:g.128847962G>A GRCh38
NC_000007.13:g.128488016G>A , CM000669.1:g.128488016G>A GRCh37
NC_000007.12:g.128275252G>A NCBI36
NG_011807.1:g.22534G>A , LRG_870:g.22534G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.4474G>A MANE Select ENSP00000327145.8:p.Glu1492Lys
ENST00000325888.12:c.4474G>A ENSP00000327145.8:p.Glu1492Lys
ENST00000346177.6:c.4474G>A ENSP00000344002.6:p.Glu1492Lys
NM_001127487.1:c.4474G>A NP_001120959.1:p.Glu1492Lys
NM_001458.4:c.4474G>A , LRG_870t1:c.4474G>A NP_001449.3:p.Glu1492Lys
NM_001127487.2:c.4474G>A NP_001120959.1:p.Glu1492Lys
NM_001458.5:c.4474G>A MANE Select NP_001449.3:p.Glu1492Lys
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Search 100 bp 3'