Canonical Allele Identifier: CA369211143
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1314338
ClinVar RCV Id: RCV001771569 RCV001868625
dbSNP Id: rs1808882683
gnomAD v3: 7-128852891-A-G
gnomAD v4: 7-128852891-A-G
COSMIC: COSM269181
MyVariant Identifiers: chr7:g.128492945A>G (hg19) chr7:g.128852891A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128852891A>G , CM000669.2:g.128852891A>G GRCh38
NC_000007.13:g.128492945A>G , CM000669.1:g.128492945A>G GRCh37
NC_000007.12:g.128280181A>G NCBI36
NG_011807.1:g.27463A>G , LRG_870:g.27463A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.6068A>G (FLNC) MANE Select ENSP00000327145.8:p.His2023Arg
ENST00000325888.12:c.6068A>G (FLNC) ENSP00000327145.8:p.His2023Arg
ENST00000346177.6:c.5969A>G (FLNC) ENSP00000344002.6:p.His1990Arg
NM_001127487.1:c.5969A>G (FLNC) NP_001120959.1:p.His1990Arg
NM_001458.4:c.6068A>G , LRG_870t1:c.6068A>G (FLNC) NP_001449.3:p.His2023Arg
NR_149055.1:n.215+394T>C (FLNC-AS1)
NM_001127487.2:c.5969A>G (FLNC) NP_001120959.1:p.His1990Arg
NM_001458.5:c.6068A>G (FLNC) MANE Select NP_001449.3:p.His2023Arg
Search 100 bp 5'
Search 100 bp 3'