Canonical Allele Identifier: CA457846450
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 539434
ClinVar RCV Id: RCV000649168 RCV003362879
dbSNP Id: rs757898362
gnomAD v4: 7-128838425-T-A
MyVariant Identifiers: chr7:g.128478479T>A (hg19) chr7:g.128838425T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128838425T>A , CM000669.2:g.128838425T>A GRCh38
NC_000007.13:g.128478479T>A , CM000669.1:g.128478479T>A GRCh37
NC_000007.12:g.128265715T>A NCBI36
NG_011807.1:g.12997T>A , LRG_870:g.12997T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.1206T>A MANE Select ENSP00000327145.8:p.Thr402=
ENST00000325888.12:c.1206T>A ENSP00000327145.8:p.Thr402=
ENST00000346177.6:c.1206T>A ENSP00000344002.6:p.Thr402=
NM_001127487.1:c.1206T>A NP_001120959.1:p.Thr402=
NM_001458.4:c.1206T>A , LRG_870t1:c.1206T>A NP_001449.3:p.Thr402=
NM_001127487.2:c.1206T>A NP_001120959.1:p.Thr402=
NM_001458.5:c.1206T>A MANE Select NP_001449.3:p.Thr402=
Search 100 bp 5'
Search 100 bp 3'