Canonical Allele Identifier: CA4475544
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 752509
ClinVar RCV Id: RCV001487181 RCV002336928
dbSNP Id: rs747436514
ExAC: 7:128489452 C / T
gnomAD v2: 7-128489452-C-T
gnomAD v3: 7-128849398-C-T
gnomAD v4: 7-128849398-C-T
MyVariant Identifiers: chr7:g.128489452C>T (hg19) chr7:g.128849398C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128849398C>T , CM000669.2:g.128849398C>T GRCh38
NC_000007.13:g.128489452C>T , CM000669.1:g.128489452C>T GRCh37
NC_000007.12:g.128276688C>T NCBI36
NG_011807.1:g.23970C>T , LRG_870:g.23970C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.5019C>T MANE Select ENSP00000327145.8:p.Ala1673=
ENST00000325888.12:c.5019C>T ENSP00000327145.8:p.Ala1673=
ENST00000346177.6:c.5019C>T ENSP00000344002.6:p.Ala1673=
NM_001127487.1:c.5019C>T NP_001120959.1:p.Ala1673=
NM_001458.4:c.5019C>T , LRG_870t1:c.5019C>T NP_001449.3:p.Ala1673=
NM_001127487.2:c.5019C>T NP_001120959.1:p.Ala1673=
NM_001458.5:c.5019C>T MANE Select NP_001449.3:p.Ala1673=
Search 100 bp 5'
Search 100 bp 3'