Canonical Allele Identifier: CA4475540

Gene: FLNC

Linked Data

• dbSNP Id: rs779560529
• ExAC: 7:128489437 G / A
• gnomAD v2: 7-128489437-G-A
• gnomAD v4: 7-128849383-G-A
• COSMIC: COSM3633106
• MyVariant Identifiers: chr7:g.128489437G>A (hg19) ; chr7:g.128849383G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128849383G>A , CM000669.2:g.128849383G>A	GRCh38
NC_000007.13:g.128489437G>A , CM000669.1:g.128489437G>A	GRCh37
NC_000007.12:g.128276673G>A	NCBI36
NG_011807.1:g.23955G>A , LRG_870:g.23955G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000325888.13:c.5004G>A MANE Select	ENSP00000327145.8:p.Val1668=
ENST00000325888.12:c.5004G>A	ENSP00000327145.8:p.Val1668=
ENST00000346177.6:c.5004G>A	ENSP00000344002.6:p.Val1668=
NM_001127487.1:c.5004G>A	NP_001120959.1:p.Val1668=
NM_001458.4:c.5004G>A , LRG_870t1:c.5004G>A	NP_001449.3:p.Val1668=
NM_001127487.2:c.5004G>A	NP_001120959.1:p.Val1668=
NM_001458.5:c.5004G>A MANE Select	NP_001449.3:p.Val1668=