Canonical Allele Identifier: CA369210793

Gene: FLNC FLNC-AS1

Linked Data

• ClinVar Variation Id: 472119
• ClinVar RCV Id: RCV000560676 ; RCV001332011 ; RCV002497177 ; RCV004024196
• dbSNP Id: rs1346364708
• gnomAD v2: 7-128492798-G-A
• gnomAD v3: 7-128852744-G-A
• gnomAD v4: 7-128852744-G-A
• COSMIC: COSM1085380
• MyVariant Identifiers: chr7:g.128492798G>A (hg19) ; chr7:g.128852744G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128852744G>A , CM000669.2:g.128852744G>A	GRCh38
NC_000007.13:g.128492798G>A , CM000669.1:g.128492798G>A	GRCh37
NC_000007.12:g.128280034G>A	NCBI36
NG_011807.1:g.27316G>A , LRG_870:g.27316G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.5996G>A (FLNC) MANE Select	ENSP00000327145.8:p.Arg1999Gln
ENST00000325888.12:c.5996G>A (FLNC)	ENSP00000327145.8:p.Arg1999Gln
ENST00000346177.6:c.5897G>A (FLNC)	ENSP00000344002.6:p.Arg1966Gln
NM_001127487.1:c.5897G>A (FLNC)	NP_001120959.1:p.Arg1966Gln
NM_001458.4:c.5996G>A , LRG_870t1:c.5996G>A (FLNC)	NP_001449.3:p.Arg1999Gln
NR_149055.1:n.215+541C>T (FLNC-AS1)
NM_001127487.2:c.5897G>A (FLNC)	NP_001120959.1:p.Arg1966Gln
NM_001458.5:c.5996G>A (FLNC) MANE Select	NP_001449.3:p.Arg1999Gln