Canonical Allele Identifier: CA369201198
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 841638
ClinVar RCV Id: RCV001043901
dbSNP Id: rs1458536220
gnomAD v4: 7-128847734-C-A
MyVariant Identifiers: chr7:g.128487788C>A (hg19) chr7:g.128847734C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128847734C>A , CM000669.2:g.128847734C>A GRCh38
NC_000007.13:g.128487788C>A , CM000669.1:g.128487788C>A GRCh37
NC_000007.12:g.128275024C>A NCBI36
NG_011807.1:g.22306C>A , LRG_870:g.22306C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.4326C>A MANE Select ENSP00000327145.8:p.Asp1442Glu
ENST00000325888.12:c.4326C>A ENSP00000327145.8:p.Asp1442Glu
ENST00000346177.6:c.4326C>A ENSP00000344002.6:p.Asp1442Glu
NM_001127487.1:c.4326C>A NP_001120959.1:p.Asp1442Glu
NM_001458.4:c.4326C>A , LRG_870t1:c.4326C>A NP_001449.3:p.Asp1442Glu
NM_001127487.2:c.4326C>A NP_001120959.1:p.Asp1442Glu
NM_001458.5:c.4326C>A MANE Select NP_001449.3:p.Asp1442Glu
Search 100 bp 5'
Search 100 bp 3'