Canonical Allele Identifier: CA4474795
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 539400
ClinVar RCV Id: RCV000649130
dbSNP Id: rs367997079

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128843314G>A , CM000669.2:g.128843314G>A GRCh38
NC_000007.13:g.128483368G>A , CM000669.1:g.128483368G>A GRCh37
NC_000007.12:g.128270604G>A NCBI36
NG_011807.1:g.17886G>A , LRG_870:g.17886G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.2636G>A MANE Select ENSP00000327145.8:p.Arg879His
ENST00000325888.12:c.2636G>A ENSP00000327145.8:p.Arg879His
ENST00000346177.6:c.2636G>A ENSP00000344002.6:p.Arg879His
NM_001127487.1:c.2636G>A NP_001120959.1:p.Arg879His
NM_001458.4:c.2636G>A , LRG_870t1:c.2636G>A NP_001449.3:p.Arg879His
NM_001127487.2:c.2636G>A NP_001120959.1:p.Arg879His
NM_001458.5:c.2636G>A MANE Select NP_001449.3:p.Arg879His