Canonical Allele Identifier: CA369211324

Gene: FLNC FLNC-AS1

Linked Data

• ClinVar Variation Id: 1751749
• ClinVar RCV Id: RCV002360297
• MyVariant Identifiers: chr7:g.128493002G>T (hg19) ; chr7:g.128852948G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128852948G>T , CM000669.2:g.128852948G>T	GRCh38
NC_000007.13:g.128493002G>T , CM000669.1:g.128493002G>T	GRCh37
NC_000007.12:g.128280238G>T	NCBI36
NG_011807.1:g.27520G>T , LRG_870:g.27520G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.6125G>T (FLNC) MANE Select	ENSP00000327145.8:p.Ser2042Ile
ENST00000325888.12:c.6125G>T (FLNC)	ENSP00000327145.8:p.Ser2042Ile
ENST00000346177.6:c.6026G>T (FLNC)	ENSP00000344002.6:p.Ser2009Ile
NM_001127487.1:c.6026G>T (FLNC)	NP_001120959.1:p.Ser2009Ile
NM_001458.4:c.6125G>T , LRG_870t1:c.6125G>T (FLNC)	NP_001449.3:p.Ser2042Ile
NR_149055.1:n.215+337C>A (FLNC-AS1)
NM_001127487.2:c.6026G>T (FLNC)	NP_001120959.1:p.Ser2009Ile
NM_001458.5:c.6125G>T (FLNC) MANE Select	NP_001449.3:p.Ser2042Ile