Canonical Allele Identifier: CA369221083

Gene: FLNC FLNC-AS1

Linked Data

• ClinVar Variation Id: 2951619
• ClinVar RCV Id: RCV003812306
• MyVariant Identifiers: chr7:g.128498406G>A (hg19) ; chr7:g.128858352G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128858352G>A , CM000669.2:g.128858352G>A	GRCh38
NC_000007.13:g.128498406G>A , CM000669.1:g.128498406G>A	GRCh37
NC_000007.12:g.128285642G>A	NCBI36
NG_011807.1:g.32924G>A , LRG_870:g.32924G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.8007G>A (FLNC) MANE Select	ENSP00000327145.8:p.Met2669Ile
ENST00000325888.12:c.8007G>A (FLNC)	ENSP00000327145.8:p.Met2669Ile
ENST00000346177.6:c.7908G>A (FLNC)	ENSP00000344002.6:p.Met2636Ile
NM_001127487.1:c.7908G>A (FLNC)	NP_001120959.1:p.Met2636Ile
NM_001458.4:c.8007G>A , LRG_870t1:c.8007G>A (FLNC)	NP_001449.3:p.Met2669Ile
NR_149055.1:n.102+4173C>T (FLNC-AS1)
NM_001127487.2:c.7908G>A (FLNC)	NP_001120959.1:p.Met2636Ile
NM_001458.5:c.8007G>A (FLNC) MANE Select	NP_001449.3:p.Met2669Ile