Canonical Allele Identifier: CA369196666
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 954190
ClinVar RCV Id: RCV001226606
dbSNP Id: rs1808488088

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128844842C>G , CM000669.2:g.128844842C>G GRCh38
NC_000007.13:g.128484896C>G , CM000669.1:g.128484896C>G GRCh37
NC_000007.12:g.128272132C>G NCBI36
NG_011807.1:g.19414C>G , LRG_870:g.19414C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.3377C>G MANE Select ENSP00000327145.8:p.Pro1126Arg
ENST00000325888.12:c.3377C>G ENSP00000327145.8:p.Pro1126Arg
ENST00000346177.6:c.3377C>G ENSP00000344002.6:p.Pro1126Arg
NM_001127487.1:c.3377C>G NP_001120959.1:p.Pro1126Arg
NM_001458.4:c.3377C>G , LRG_870t1:c.3377C>G NP_001449.3:p.Pro1126Arg
NM_001127487.2:c.3377C>G NP_001120959.1:p.Pro1126Arg
NM_001458.5:c.3377C>G MANE Select NP_001449.3:p.Pro1126Arg