Canonical Allele Identifier: CA369222233

Gene: FLNC FLNC-AS1

Linked Data

• ClinVar Variation Id: 2133422
• ClinVar RCV Id: RCV003040925
• MyVariant Identifiers: chr7:g.128498567A>T (hg19) ; chr7:g.128858513A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128858513A>T , CM000669.2:g.128858513A>T	GRCh38
NC_000007.13:g.128498567A>T , CM000669.1:g.128498567A>T	GRCh37
NC_000007.12:g.128285803A>T	NCBI36
NG_011807.1:g.33085A>T , LRG_870:g.33085A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.8168A>T (FLNC) MANE Select	ENSP00000327145.8:p.Lys2723Met
ENST00000325888.12:c.8168A>T (FLNC)	ENSP00000327145.8:p.Lys2723Met
ENST00000346177.6:c.8069A>T (FLNC)	ENSP00000344002.6:p.Lys2690Met
NM_001127487.1:c.8069A>T (FLNC)	NP_001120959.1:p.Lys2690Met
NM_001458.4:c.8168A>T , LRG_870t1:c.8168A>T (FLNC)	NP_001449.3:p.Lys2723Met
NR_149055.1:n.102+4012T>A (FLNC-AS1)
NM_001127487.2:c.8069A>T (FLNC)	NP_001120959.1:p.Lys2690Met
NM_001458.5:c.8168A>T (FLNC) MANE Select	NP_001449.3:p.Lys2723Met