Canonical Allele Identifier: CA4474348
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 539393
ClinVar RCV Id: RCV000649122
dbSNP Id: rs772697482

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128840046G>A , CM000669.2:g.128840046G>A GRCh38
NC_000007.13:g.128480100G>A , CM000669.1:g.128480100G>A GRCh37
NC_000007.12:g.128267336G>A NCBI36
NG_011807.1:g.14618G>A , LRG_870:g.14618G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.1435G>A MANE Select ENSP00000327145.8:p.Ala479Thr
ENST00000325888.12:c.1435G>A ENSP00000327145.8:p.Ala479Thr
ENST00000346177.6:c.1435G>A ENSP00000344002.6:p.Ala479Thr
NM_001127487.1:c.1435G>A NP_001120959.1:p.Ala479Thr
NM_001458.4:c.1435G>A , LRG_870t1:c.1435G>A NP_001449.3:p.Ala479Thr
NM_001127487.2:c.1435G>A NP_001120959.1:p.Ala479Thr
NM_001458.5:c.1435G>A MANE Select NP_001449.3:p.Ala479Thr