Canonical Allele Identifier: CA369211307
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 654143
ClinVar RCV Id: RCV000810039
dbSNP Id: rs1585168065
MyVariant Identifiers: chr7:g.128492999C>A (hg19) chr7:g.128852945C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128852945C>A , CM000669.2:g.128852945C>A GRCh38
NC_000007.13:g.128492999C>A , CM000669.1:g.128492999C>A GRCh37
NC_000007.12:g.128280235C>A NCBI36
NG_011807.1:g.27517C>A , LRG_870:g.27517C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.6122C>A (FLNC) MANE Select ENSP00000327145.8:p.Ala2041Asp
ENST00000325888.12:c.6122C>A (FLNC) ENSP00000327145.8:p.Ala2041Asp
ENST00000346177.6:c.6023C>A (FLNC) ENSP00000344002.6:p.Ala2008Asp
NM_001127487.1:c.6023C>A (FLNC) NP_001120959.1:p.Ala2008Asp
NM_001458.4:c.6122C>A , LRG_870t1:c.6122C>A (FLNC) NP_001449.3:p.Ala2041Asp
NR_149055.1:n.215+340G>T (FLNC-AS1)
NM_001127487.2:c.6023C>A (FLNC) NP_001120959.1:p.Ala2008Asp
NM_001458.5:c.6122C>A (FLNC) MANE Select NP_001449.3:p.Ala2041Asp
Search 100 bp 5'
Search 100 bp 3'