Canonical Allele Identifier: CA166217101
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 2929498
ClinVar RCV Id: RCV003784664
dbSNP Id: rs779240577
MyVariant Identifiers: chr7:g.128481232A>T (hg19) chr7:g.128841178A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128841178A>T , CM000669.2:g.128841178A>T GRCh38
NC_000007.13:g.128481232A>T , CM000669.1:g.128481232A>T GRCh37
NC_000007.12:g.128268468A>T NCBI36
NG_011807.1:g.15750A>T , LRG_870:g.15750A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.1822A>T MANE Select ENSP00000327145.8:p.Ile608Phe
ENST00000325888.12:c.1822A>T ENSP00000327145.8:p.Ile608Phe
ENST00000346177.6:c.1822A>T ENSP00000344002.6:p.Ile608Phe
NM_001127487.1:c.1822A>T NP_001120959.1:p.Ile608Phe
NM_001458.4:c.1822A>T , LRG_870t1:c.1822A>T NP_001449.3:p.Ile608Phe
NM_001127487.2:c.1822A>T NP_001120959.1:p.Ile608Phe
NM_001458.5:c.1822A>T MANE Select NP_001449.3:p.Ile608Phe
Search 100 bp 5'
Search 100 bp 3'