Canonical Allele Identifier: CA4474815

Gene: FLNC

Linked Data

• ClinVar Variation Id: 472017
• ClinVar RCV Id: RCV000549101 ; RCV002431682 ; RCV003144352
• dbSNP Id: rs769110628
• ExAC: 7:128483473 G / A
• gnomAD v2: 7-128483473-G-A
• gnomAD v3: 7-128843419-G-A
• gnomAD v4: 7-128843419-G-A
• MyVariant Identifiers: chr7:g.128483473G>A (hg19) ; chr7:g.128843419G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128843419G>A , CM000669.2:g.128843419G>A	GRCh38
NC_000007.13:g.128483473G>A , CM000669.1:g.128483473G>A	GRCh37
NC_000007.12:g.128270709G>A	NCBI36
NG_011807.1:g.17991G>A , LRG_870:g.17991G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.2653G>A MANE Select	ENSP00000327145.8:p.Gly885Arg
ENST00000325888.12:c.2653G>A	ENSP00000327145.8:p.Gly885Arg
ENST00000346177.6:c.2653G>A	ENSP00000344002.6:p.Gly885Arg
NM_001127487.1:c.2653G>A	NP_001120959.1:p.Gly885Arg
NM_001458.4:c.2653G>A , LRG_870t1:c.2653G>A	NP_001449.3:p.Gly885Arg
NM_001127487.2:c.2653G>A	NP_001120959.1:p.Gly885Arg
NM_001458.5:c.2653G>A MANE Select	NP_001449.3:p.Gly885Arg