Canonical Allele Identifier: CA4475349
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 1513438
ClinVar RCV Id: RCV002026172
dbSNP Id: rs767473791

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128847945G>T , CM000669.2:g.128847945G>T GRCh38
NC_000007.13:g.128487999G>T , CM000669.1:g.128487999G>T GRCh37
NC_000007.12:g.128275235G>T NCBI36
NG_011807.1:g.22517G>T , LRG_870:g.22517G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.4457G>T MANE Select ENSP00000327145.8:p.Gly1486Val
ENST00000325888.12:c.4457G>T ENSP00000327145.8:p.Gly1486Val
ENST00000346177.6:c.4457G>T ENSP00000344002.6:p.Gly1486Val
NM_001127487.1:c.4457G>T NP_001120959.1:p.Gly1486Val
NM_001458.4:c.4457G>T , LRG_870t1:c.4457G>T NP_001449.3:p.Gly1486Val
NM_001127487.2:c.4457G>T NP_001120959.1:p.Gly1486Val
NM_001458.5:c.4457G>T MANE Select NP_001449.3:p.Gly1486Val