Canonical Allele Identifier: CA457846657
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 3048965
ClinVar RCV Id: RCV003956912
dbSNP Id: rs1808304576
gnomAD v3: 7-128840918-C-A
gnomAD v4: 7-128840918-C-A
MyVariant Identifiers: chr7:g.128480972C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128840918C>A , CM000669.2:g.128840918C>A GRCh38
NC_000007.13:g.128480972C>A , CM000669.1:g.128480972C>A GRCh37
NC_000007.12:g.128268208C>A NCBI36
NG_011807.1:g.15490C>A , LRG_870:g.15490C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.1761C>A MANE Select ENSP00000327145.8:p.Gly587=
ENST00000325888.12:c.1761C>A ENSP00000327145.8:p.Gly587=
ENST00000346177.6:c.1761C>A ENSP00000344002.6:p.Gly587=
NM_001127487.1:c.1761C>A NP_001120959.1:p.Gly587=
NM_001458.4:c.1761C>A , LRG_870t1:c.1761C>A NP_001449.3:p.Gly587=
NM_001127487.2:c.1761C>A NP_001120959.1:p.Gly587=
NM_001458.5:c.1761C>A MANE Select NP_001449.3:p.Gly587=
Search 100 bp 5'
Search 100 bp 3'