Canonical Allele Identifier: CA578150157

Gene: FLNC

Linked Data

• ClinVar Variation Id: 2139450
• ClinVar RCV Id: RCV003052604
• dbSNP Id: rs1220165791
• gnomAD v2: 7-128481034-T-TG
• gnomAD v3: 7-128840980-T-TG
• gnomAD v4: 7-128840980-T-TG
• MyVariant Identifiers: chr7:g.128481034_128481035insG (hg19) ; chr7:g.128840980_128840981insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128840986dup , CM000669.2:g.128840986dup	GRCh38
NC_000007.13:g.128481040dup , CM000669.1:g.128481040dup	GRCh37
NC_000007.12:g.128268276dup	NCBI36
NG_011807.1:g.15558dup , LRG_870:g.15558dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.1813+16dup MANE Select	ENSP00000327145.8:n.1813+16dup
ENST00000325888.12:c.1813+16dup	ENSP00000327145.8:n.1813+16dup
ENST00000346177.6:c.1813+16dup	ENSP00000344002.6:n.1813+16dup
NM_001127487.1:c.1813+16dup	NP_001120959.1:n.1813+16dup
NM_001458.4:c.1813+16dup , LRG_870t1:c.1813+16dup	NP_001449.3:n.1813+16dup
NM_001127487.2:c.1813+16dup	NP_001120959.1:n.1813+16dup
NM_001458.5:c.1813+16dup MANE Select	NP_001449.3:n.1813+16dup