Canonical Allele Identifier: CA4474933

Gene: FLNC

Linked Data

• ClinVar Variation Id: 286341
• ClinVar RCV Id: RCV000402374 ; RCV000528307 ; RCV001701987 ; RCV002436114
• dbSNP Id: rs61737781
• ExAC: 7:128484134 G / A
• gnomAD v2: 7-128484134-G-A
• gnomAD v3: 7-128844080-G-A
• gnomAD v4: 7-128844080-G-A
• COSMIC: COSM3633087
• MyVariant Identifiers: chr7:g.128484134G>A (hg19) ; chr7:g.128844080G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128844080G>A , CM000669.2:g.128844080G>A	GRCh38
NC_000007.13:g.128484134G>A , CM000669.1:g.128484134G>A	GRCh37
NC_000007.12:g.128271370G>A	NCBI36
NG_011807.1:g.18652G>A , LRG_870:g.18652G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.3006G>A MANE Select	ENSP00000327145.8:p.Arg1002=
ENST00000325888.12:c.3006G>A	ENSP00000327145.8:p.Arg1002=
ENST00000346177.6:c.3006G>A	ENSP00000344002.6:p.Arg1002=
NM_001127487.1:c.3006G>A	NP_001120959.1:p.Arg1002=
NM_001458.4:c.3006G>A , LRG_870t1:c.3006G>A	NP_001449.3:p.Arg1002=
NM_001127487.2:c.3006G>A	NP_001120959.1:p.Arg1002=
NM_001458.5:c.3006G>A MANE Select	NP_001449.3:p.Arg1002=