Canonical Allele Identifier: CA2573052816
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1322924
ClinVar RCV Id: RCV001783299
dbSNP Id: rs2128939113

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128853566_128853569del , CM000669.2:g.128853566_128853569del GRCh38
NC_000007.13:g.128493620_128493623del , CM000669.1:g.128493620_128493623del GRCh37
NC_000007.12:g.128280856_128280859del NCBI36
NG_011807.1:g.28138_28141del , LRG_870:g.28138_28141del

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.6306_6309del (FLNC) MANE Select ENSP00000327145.8:p.Thr2103SerfsTer23
ENST00000325888.12:c.6306_6309del (FLNC) ENSP00000327145.8:p.Thr2103SerfsTer23
ENST00000346177.6:c.6207_6210del (FLNC) ENSP00000344002.6:p.Thr2070SerfsTer23
NM_001127487.1:c.6207_6210del (FLNC) NP_001120959.1:p.Thr2070SerfsTer23
NM_001458.4:c.6306_6309del , LRG_870t1:c.6306_6309del (FLNC) NP_001449.3:p.Thr2103SerfsTer23
NR_149055.1:n.103-170_103-167del (FLNC-AS1)
NM_001127487.2:c.6207_6210del (FLNC) NP_001120959.1:p.Thr2070SerfsTer23
NM_001458.5:c.6306_6309del (FLNC) MANE Select NP_001449.3:p.Thr2103SerfsTer23