Canonical Allele Identifier: CA457848574
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 2027586
ClinVar RCV Id: RCV002866693
dbSNP Id: rs755909576
gnomAD v2: 7-128488006-C-G
gnomAD v4: 7-128847952-C-G
MyVariant Identifiers: chr7:g.128488006C>G (hg19) chr7:g.128847952C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128847952C>G , CM000669.2:g.128847952C>G GRCh38
NC_000007.13:g.128488006C>G , CM000669.1:g.128488006C>G GRCh37
NC_000007.12:g.128275242C>G NCBI36
NG_011807.1:g.22524C>G , LRG_870:g.22524C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.4464C>G MANE Select ENSP00000327145.8:p.Ala1488=
ENST00000325888.12:c.4464C>G ENSP00000327145.8:p.Ala1488=
ENST00000346177.6:c.4464C>G ENSP00000344002.6:p.Ala1488=
NM_001127487.1:c.4464C>G NP_001120959.1:p.Ala1488=
NM_001458.4:c.4464C>G , LRG_870t1:c.4464C>G NP_001449.3:p.Ala1488=
NM_001127487.2:c.4464C>G NP_001120959.1:p.Ala1488=
NM_001458.5:c.4464C>G MANE Select NP_001449.3:p.Ala1488=
Search 100 bp 5'
Search 100 bp 3'