Canonical Allele Identifier: CA369227043
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 2947425
ClinVar RCV Id: RCV003804055

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128840931T>C , CM000669.2:g.128840931T>C GRCh38
NC_000007.13:g.128480985T>C , CM000669.1:g.128480985T>C GRCh37
NC_000007.12:g.128268221T>C NCBI36
NG_011807.1:g.15503T>C , LRG_870:g.15503T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.1774T>C MANE Select ENSP00000327145.8:p.Phe592Leu
ENST00000325888.12:c.1774T>C ENSP00000327145.8:p.Phe592Leu
ENST00000346177.6:c.1774T>C ENSP00000344002.6:p.Phe592Leu
NM_001127487.1:c.1774T>C NP_001120959.1:p.Phe592Leu
NM_001458.4:c.1774T>C , LRG_870t1:c.1774T>C NP_001449.3:p.Phe592Leu
NM_001127487.2:c.1774T>C NP_001120959.1:p.Phe592Leu
NM_001458.5:c.1774T>C MANE Select NP_001449.3:p.Phe592Leu