Canonical Allele Identifier: CA658797015
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 539446
ClinVar RCV Id: RCV000649181
dbSNP Id: rs1554400700
MyVariant Identifiers: chr7:g.128491537dup (hg19) chr7:g.128851483dup (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128851483dup , CM000669.2:g.128851483dup GRCh38
NC_000007.13:g.128491537dup , CM000669.1:g.128491537dup GRCh37
NC_000007.12:g.128278773dup NCBI36
NG_011807.1:g.26055dup , LRG_870:g.26055dup

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.5697dup (FLNC) MANE Select ENSP00000327145.8:p.Ser1900IlefsTer8
ENST00000325888.12:c.5697dup (FLNC) ENSP00000327145.8:p.Ser1900IlefsTer8
ENST00000346177.6:c.5598dup (FLNC) ENSP00000344002.6:p.Ser1867IlefsTer8
NM_001127487.1:c.5598dup (FLNC) NP_001120959.1:p.Ser1867IlefsTer8
NM_001458.4:c.5697dup , LRG_870t1:c.5697dup (FLNC) NP_001449.3:p.Ser1900IlefsTer8
NR_149055.1:n.233dup (FLNC-AS1)
NM_001127487.2:c.5598dup (FLNC) NP_001120959.1:p.Ser1867IlefsTer8
NM_001458.5:c.5697dup (FLNC) MANE Select NP_001449.3:p.Ser1900IlefsTer8
Search 100 bp 5'
Search 100 bp 3'