Canonical Allele Identifier: CA4474470
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 743738
ClinVar RCV Id: RCV001431898 RCV002409178
dbSNP Id: rs367987438
ExAC: 7:128480981 C / T
gnomAD v2: 7-128480981-C-T
gnomAD v3: 7-128840927-C-T
gnomAD v4: 7-128840927-C-T
MyVariant Identifiers: chr7:g.128480981C>T (hg19) chr7:g.128840927C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128840927C>T , CM000669.2:g.128840927C>T GRCh38
NC_000007.13:g.128480981C>T , CM000669.1:g.128480981C>T GRCh37
NC_000007.12:g.128268217C>T NCBI36
NG_011807.1:g.15499C>T , LRG_870:g.15499C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.1770C>T MANE Select ENSP00000327145.8:p.Ala590=
ENST00000325888.12:c.1770C>T ENSP00000327145.8:p.Ala590=
ENST00000346177.6:c.1770C>T ENSP00000344002.6:p.Ala590=
NM_001127487.1:c.1770C>T NP_001120959.1:p.Ala590=
NM_001458.4:c.1770C>T , LRG_870t1:c.1770C>T NP_001449.3:p.Ala590=
NM_001127487.2:c.1770C>T NP_001120959.1:p.Ala590=
NM_001458.5:c.1770C>T MANE Select NP_001449.3:p.Ala590=
Search 100 bp 5'
Search 100 bp 3'