Canonical Allele Identifier: CA244143
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 196774
ClinVar RCV Id: RCV000177639 RCV000552189 RCV002345618
dbSNP Id: rs200233856
ExAC: 7:128490514 C / T
gnomAD v2: 7-128490514-C-T
gnomAD v3: 7-128850460-C-T
gnomAD v4: 7-128850460-C-T
MyVariant Identifiers: chr7:g.128490514C>T (hg19) chr7:g.128850460C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128850460C>T , CM000669.2:g.128850460C>T GRCh38
NC_000007.13:g.128490514C>T , CM000669.1:g.128490514C>T GRCh37
NC_000007.12:g.128277750C>T NCBI36
NG_011807.1:g.25032C>T , LRG_870:g.25032C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.5375C>T (FLNC) MANE Select ENSP00000327145.8:p.Ala1792Val
ENST00000325888.12:c.5375C>T (FLNC) ENSP00000327145.8:p.Ala1792Val
ENST00000346177.6:c.5276C>T (FLNC) ENSP00000344002.6:p.Ala1759Val
NM_001127487.1:c.5276C>T (FLNC) NP_001120959.1:p.Ala1759Val
NM_001458.4:c.5375C>T , LRG_870t1:c.5375C>T (FLNC) NP_001449.3:p.Ala1792Val
NR_149055.1:n.316-55G>A (FLNC-AS1)
NM_001127487.2:c.5276C>T (FLNC) NP_001120959.1:p.Ala1759Val
NM_001458.5:c.5375C>T (FLNC) MANE Select NP_001449.3:p.Ala1792Val
Search 100 bp 5'
Search 100 bp 3'