Canonical Allele Identifier: CA369211346

Gene: FLNC FLNC-AS1

Linked Data

• ClinVar Variation Id: 2947137
• ClinVar RCV Id: RCV003801327
• gnomAD v4: 7-128852953-G-T
• MyVariant Identifiers: chr7:g.128493007G>T (hg19) ; chr7:g.128852953G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128852953G>T , CM000669.2:g.128852953G>T	GRCh38
NC_000007.13:g.128493007G>T , CM000669.1:g.128493007G>T	GRCh37
NC_000007.12:g.128280243G>T	NCBI36
NG_011807.1:g.27525G>T , LRG_870:g.27525G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.6130G>T (FLNC) MANE Select	ENSP00000327145.8:p.Val2044Leu
ENST00000325888.12:c.6130G>T (FLNC)	ENSP00000327145.8:p.Val2044Leu
ENST00000346177.6:c.6031G>T (FLNC)	ENSP00000344002.6:p.Val2011Leu
NM_001127487.1:c.6031G>T (FLNC)	NP_001120959.1:p.Val2011Leu
NM_001458.4:c.6130G>T , LRG_870t1:c.6130G>T (FLNC)	NP_001449.3:p.Val2044Leu
NR_149055.1:n.215+332C>A (FLNC-AS1)
NM_001127487.2:c.6031G>T (FLNC)	NP_001120959.1:p.Val2011Leu
NM_001458.5:c.6130G>T (FLNC) MANE Select	NP_001449.3:p.Val2044Leu