Canonical Allele Identifier: CA658657717
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 471993
ClinVar RCV Id: RCV000554717
dbSNP Id: rs1554398377
MyVariant Identifiers: chr7:g.128481355_128481363dup (hg19) chr7:g.128841301_128841309dup (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128841301_128841309dup , CM000669.2:g.128841301_128841309dup GRCh38
NC_000007.13:g.128481355_128481363dup , CM000669.1:g.128481355_128481363dup GRCh37
NC_000007.12:g.128268591_128268599dup NCBI36
NG_011807.1:g.15873_15881dup , LRG_870:g.15873_15881dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.1945_1953dup MANE Select ENSP00000327145.8:p.Asp651_Ser652insIleArgAsp
ENST00000325888.12:c.1945_1953dup ENSP00000327145.8:p.Asp651_Ser652insIleArgAsp
ENST00000346177.6:c.1945_1953dup ENSP00000344002.6:p.Asp651_Ser652insIleArgAsp
NM_001127487.1:c.1945_1953dup NP_001120959.1:p.Asp651_Ser652insIleArgAsp
NM_001458.4:c.1945_1953dup , LRG_870t1:c.1945_1953dup NP_001449.3:p.Asp651_Ser652insIleArgAsp
NM_001127487.2:c.1945_1953dup NP_001120959.1:p.Asp651_Ser652insIleArgAsp
NM_001458.5:c.1945_1953dup MANE Select NP_001449.3:p.Asp651_Ser652insIleArgAsp
Search 100 bp 5'
Search 100 bp 3'