Canonical Allele Identifier: CA4475087

Gene: FLNC

Linked Data

• ClinVar Variation Id: 472043
• ClinVar RCV Id: RCV000532655 ; RCV002456216
• dbSNP Id: rs528279616
• ExAC: 7:128485141 G / A
• gnomAD v2: 7-128485141-G-A
• gnomAD v3: 7-128845087-G-A
• gnomAD v4: 7-128845087-G-A
• MyVariant Identifiers: chr7:g.128485141G>A (hg19) ; chr7:g.128845087G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128845087G>A , CM000669.2:g.128845087G>A	GRCh38
NC_000007.13:g.128485141G>A , CM000669.1:g.128485141G>A	GRCh37
NC_000007.12:g.128272377G>A	NCBI36
NG_011807.1:g.19659G>A , LRG_870:g.19659G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.3622G>A MANE Select	ENSP00000327145.8:p.Ala1208Thr
ENST00000325888.12:c.3622G>A	ENSP00000327145.8:p.Ala1208Thr
ENST00000346177.6:c.3622G>A	ENSP00000344002.6:p.Ala1208Thr
NM_001127487.1:c.3622G>A	NP_001120959.1:p.Ala1208Thr
NM_001458.4:c.3622G>A , LRG_870t1:c.3622G>A	NP_001449.3:p.Ala1208Thr
NM_001127487.2:c.3622G>A	NP_001120959.1:p.Ala1208Thr
NM_001458.5:c.3622G>A MANE Select	NP_001449.3:p.Ala1208Thr