Canonical Allele Identifier: CA4475304

Gene: FLNC

Linked Data

• ClinVar Variation Id: 285306
• ClinVar RCV Id: RCV000407361 ; RCV000551693
• dbSNP Id: rs140031589
• ExAC: 7:128487747 A / C
• gnomAD v2: 7-128487747-A-C
• gnomAD v3: 7-128847693-A-C
• gnomAD v4: 7-128847693-A-C
• MyVariant Identifiers: chr7:g.128487747A>C (hg19) ; chr7:g.128847693A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128847693A>C , CM000669.2:g.128847693A>C	GRCh38
NC_000007.13:g.128487747A>C , CM000669.1:g.128487747A>C	GRCh37
NC_000007.12:g.128274983A>C	NCBI36
NG_011807.1:g.22265A>C , LRG_870:g.22265A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000325888.13:c.4289-4A>C MANE Select	ENSP00000327145.8:n.4289-4A>C
ENST00000325888.12:c.4289-4A>C	ENSP00000327145.8:n.4289-4A>C
ENST00000346177.6:c.4289-4A>C	ENSP00000344002.6:n.4289-4A>C
NM_001127487.1:c.4289-4A>C	NP_001120959.1:n.4289-4A>C
NM_001458.4:c.4289-4A>C , LRG_870t1:c.4289-4A>C	NP_001449.3:n.4289-4A>C
NM_001127487.2:c.4289-4A>C	NP_001120959.1:n.4289-4A>C
NM_001458.5:c.4289-4A>C MANE Select	NP_001449.3:n.4289-4A>C