Canonical Allele Identifier: CA4475060

Gene: FLNC

Linked Data

• ClinVar Variation Id: 290008
• ClinVar RCV Id: RCV000289546 ; RCV000649192 ; RCV002338861
• dbSNP Id: rs530742766
• ExAC: 7:128485025 A / G
• gnomAD v2: 7-128485025-A-G
• gnomAD v3: 7-128844971-A-G
• gnomAD v4: 7-128844971-A-G
• COSMIC: COSM5979438
• MyVariant Identifiers: chr7:g.128485025A>G (hg19) ; chr7:g.128844971A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128844971A>G , CM000669.2:g.128844971A>G	GRCh38
NC_000007.13:g.128485025A>G , CM000669.1:g.128485025A>G	GRCh37
NC_000007.12:g.128272261A>G	NCBI36
NG_011807.1:g.19543A>G , LRG_870:g.19543A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000325888.13:c.3506A>G MANE Select	ENSP00000327145.8:p.Lys1169Arg
ENST00000325888.12:c.3506A>G	ENSP00000327145.8:p.Lys1169Arg
ENST00000346177.6:c.3506A>G	ENSP00000344002.6:p.Lys1169Arg
NM_001127487.1:c.3506A>G	NP_001120959.1:p.Lys1169Arg
NM_001458.4:c.3506A>G , LRG_870t1:c.3506A>G	NP_001449.3:p.Lys1169Arg
NM_001127487.2:c.3506A>G	NP_001120959.1:p.Lys1169Arg
NM_001458.5:c.3506A>G MANE Select	NP_001449.3:p.Lys1169Arg