Canonical Allele Identifier: CA369211469

Gene: FLNC FLNC-AS1

Linked Data

• ClinVar Variation Id: 861277
• ClinVar RCV Id: RCV002355091 ; RCV001067770
• dbSNP Id: rs1808887627
• MyVariant Identifiers: chr7:g.128493037G>A (hg19) ; chr7:g.128852983G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128852983G>A , CM000669.2:g.128852983G>A	GRCh38
NC_000007.13:g.128493037G>A , CM000669.1:g.128493037G>A	GRCh37
NC_000007.12:g.128280273G>A	NCBI36
NG_011807.1:g.27555G>A , LRG_870:g.27555G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.6160G>A (FLNC) MANE Select	ENSP00000327145.8:p.Gly2054Arg
ENST00000325888.12:c.6160G>A (FLNC)	ENSP00000327145.8:p.Gly2054Arg
ENST00000346177.6:c.6061G>A (FLNC)	ENSP00000344002.6:p.Gly2021Arg
NM_001127487.1:c.6061G>A (FLNC)	NP_001120959.1:p.Gly2021Arg
NM_001458.4:c.6160G>A , LRG_870t1:c.6160G>A (FLNC)	NP_001449.3:p.Gly2054Arg
NR_149055.1:n.215+302C>T (FLNC-AS1)
NM_001127487.2:c.6061G>A (FLNC)	NP_001120959.1:p.Gly2021Arg
NM_001458.5:c.6160G>A (FLNC) MANE Select	NP_001449.3:p.Gly2054Arg