Canonical Allele Identifier: CA578150972

Gene: FLNC

Linked Data

• ClinVar Variation Id: 2926672
• ClinVar RCV Id: RCV003788910 ; RCV004366541
• dbSNP Id: rs1437325933
• gnomAD v2: 7-128483459-C-CA
• gnomAD v4: 7-128843405-C-CA
• MyVariant Identifiers: chr7:g.128483459_128483460insA (hg19) ; chr7:g.128843405_128843406insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128843406dup , CM000669.2:g.128843406dup	GRCh38
NC_000007.13:g.128483460dup , CM000669.1:g.128483460dup	GRCh37
NC_000007.12:g.128270696dup	NCBI36
NG_011807.1:g.17978dup , LRG_870:g.17978dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.2642-2dup MANE Select	ENSP00000327145.8:n.2642-2dup
ENST00000325888.12:c.2642-2dup	ENSP00000327145.8:n.2642-2dup
ENST00000346177.6:c.2642-2dup	ENSP00000344002.6:n.2642-2dup
NM_001127487.1:c.2642-2dup	NP_001120959.1:n.2642-2dup
NM_001458.4:c.2642-2dup , LRG_870t1:c.2642-2dup	NP_001449.3:n.2642-2dup
NM_001127487.2:c.2642-2dup	NP_001120959.1:n.2642-2dup
NM_001458.5:c.2642-2dup MANE Select	NP_001449.3:n.2642-2dup