Canonical Allele Identifier: CA4474960

Gene: FLNC

Linked Data

• ClinVar Variation Id: 432753
• ClinVar RCV Id: RCV000497327 ; RCV000701577 ; RCV002323864 ; RCV002506207 ; RCV003486853
• dbSNP Id: rs201863231
• ExAC: 7:128484261 C / A
• gnomAD v2: 7-128484261-C-A
• gnomAD v3: 7-128844207-C-A
• gnomAD v4: 7-128844207-C-A
• MyVariant Identifiers: chr7:g.128484261C>A (hg19) ; chr7:g.128844207C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128844207C>A , CM000669.2:g.128844207C>A	GRCh38
NC_000007.13:g.128484261C>A , CM000669.1:g.128484261C>A	GRCh37
NC_000007.12:g.128271497C>A	NCBI36
NG_011807.1:g.18779C>A , LRG_870:g.18779C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000325888.13:c.3133C>A MANE Select	ENSP00000327145.8:p.His1045Asn
ENST00000325888.12:c.3133C>A	ENSP00000327145.8:p.His1045Asn
ENST00000346177.6:c.3133C>A	ENSP00000344002.6:p.His1045Asn
NM_001127487.1:c.3133C>A	NP_001120959.1:p.His1045Asn
NM_001458.4:c.3133C>A , LRG_870t1:c.3133C>A	NP_001449.3:p.His1045Asn
NM_001127487.2:c.3133C>A	NP_001120959.1:p.His1045Asn
NM_001458.5:c.3133C>A MANE Select	NP_001449.3:p.His1045Asn