Canonical Allele Identifier: CA4476024
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 658010
ClinVar RCV Id: RCV000814736 RCV002372293 RCV003918275
dbSNP Id: rs760535041
ExAC: 7:128494133 G / A
gnomAD v2: 7-128494133-G-A
gnomAD v3: 7-128854079-G-A
gnomAD v4: 7-128854079-G-A
COSMIC: COSM484801
MyVariant Identifiers: chr7:g.128494133G>A (hg19) chr7:g.128854079G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128854079G>A , CM000669.2:g.128854079G>A GRCh38
NC_000007.13:g.128494133G>A , CM000669.1:g.128494133G>A GRCh37
NC_000007.12:g.128281369G>A NCBI36
NG_011807.1:g.28651G>A , LRG_870:g.28651G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.6590G>A (FLNC) MANE Select ENSP00000327145.8:p.Arg2197Gln
ENST00000325888.12:c.6590G>A (FLNC) ENSP00000327145.8:p.Arg2197Gln
ENST00000346177.6:c.6491G>A (FLNC) ENSP00000344002.6:p.Arg2164Gln
NM_001127487.1:c.6491G>A (FLNC) NP_001120959.1:p.Arg2164Gln
NM_001458.4:c.6590G>A , LRG_870t1:c.6590G>A (FLNC) NP_001449.3:p.Arg2197Gln
NR_149055.1:n.103-682C>T (FLNC-AS1)
NM_001127487.2:c.6491G>A (FLNC) NP_001120959.1:p.Arg2164Gln
NM_001458.5:c.6590G>A (FLNC) MANE Select NP_001449.3:p.Arg2197Gln
Search 100 bp 5'
Search 100 bp 3'