Canonical Allele Identifier: CA4475117

Gene: FLNC

Linked Data

• ClinVar Variation Id: 472047
• ClinVar RCV Id: RCV000551475 ; RCV001692180 ; RCV001703202 ; RCV002350338
• dbSNP Id: rs556428588
• ExAC: 7:128485284 C / A
• gnomAD v2: 7-128485284-C-A
• gnomAD v3: 7-128845230-C-A
• gnomAD v4: 7-128845230-C-A
• MyVariant Identifiers: chr7:g.128485284C>A (hg19) ; chr7:g.128845230C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128845230C>A , CM000669.2:g.128845230C>A	GRCh38
NC_000007.13:g.128485284C>A , CM000669.1:g.128485284C>A	GRCh37
NC_000007.12:g.128272520C>A	NCBI36
NG_011807.1:g.19802C>A , LRG_870:g.19802C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000325888.13:c.3765C>A MANE Select	ENSP00000327145.8:p.Val1255=
ENST00000325888.12:c.3765C>A	ENSP00000327145.8:p.Val1255=
ENST00000346177.6:c.3765C>A	ENSP00000344002.6:p.Val1255=
NM_001127487.1:c.3765C>A	NP_001120959.1:p.Val1255=
NM_001458.4:c.3765C>A , LRG_870t1:c.3765C>A	NP_001449.3:p.Val1255=
NM_001127487.2:c.3765C>A	NP_001120959.1:p.Val1255=
NM_001458.5:c.3765C>A MANE Select	NP_001449.3:p.Val1255=