Canonical Allele Identifier: CA166186607
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1592722
ClinVar RCV Id: RCV002096686
dbSNP Id: rs558457664
gnomAD v3: 7-128850464-G-A
gnomAD v4: 7-128850464-G-A
MyVariant Identifiers: chr7:g.128490518G>A (hg19) chr7:g.128850464G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128850464G>A , CM000669.2:g.128850464G>A GRCh38
NC_000007.13:g.128490518G>A , CM000669.1:g.128490518G>A GRCh37
NC_000007.12:g.128277754G>A NCBI36
NG_011807.1:g.25036G>A , LRG_870:g.25036G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.5379G>A (FLNC) MANE Select ENSP00000327145.8:p.Val1793=
ENST00000325888.12:c.5379G>A (FLNC) ENSP00000327145.8:p.Val1793=
ENST00000346177.6:c.5280G>A (FLNC) ENSP00000344002.6:p.Val1760=
NM_001127487.1:c.5280G>A (FLNC) NP_001120959.1:p.Val1760=
NM_001458.4:c.5379G>A , LRG_870t1:c.5379G>A (FLNC) NP_001449.3:p.Val1793=
NR_149055.1:n.316-59C>T (FLNC-AS1)
NM_001127487.2:c.5280G>A (FLNC) NP_001120959.1:p.Val1760=
NM_001458.5:c.5379G>A (FLNC) MANE Select NP_001449.3:p.Val1793=
Search 100 bp 5'
Search 100 bp 3'