Canonical Allele Identifier: CA2697557597
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 2690600
ClinVar RCV Id: RCV003489363

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128841327del , CM000669.2:g.128841327del GRCh38
NC_000007.13:g.128481381del , CM000669.1:g.128481381del GRCh37
NC_000007.12:g.128268617del NCBI36
NG_011807.1:g.15899del , LRG_870:g.15899del

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.1971del MANE Select ENSP00000327145.8:p.His657GlnfsTer14
ENST00000325888.12:c.1971del ENSP00000327145.8:p.His657GlnfsTer14
ENST00000346177.6:c.1971del ENSP00000344002.6:p.His657GlnfsTer14
NM_001127487.1:c.1971del NP_001120959.1:p.His657GlnfsTer14
NM_001458.4:c.1971del , LRG_870t1:c.1971del NP_001449.3:p.His657GlnfsTer14
NM_001127487.2:c.1971del NP_001120959.1:p.His657GlnfsTer14
NM_001458.5:c.1971del MANE Select NP_001449.3:p.His657GlnfsTer14