Canonical Allele Identifier: CA369224283
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 539398
ClinVar RCV Id: RCV000649128

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128838405A>G , CM000669.2:g.128838405A>G GRCh38
NC_000007.13:g.128478459A>G , CM000669.1:g.128478459A>G GRCh37
NC_000007.12:g.128265695A>G NCBI36
NG_011807.1:g.12977A>G , LRG_870:g.12977A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.1186A>G MANE Select ENSP00000327145.8:p.Thr396Ala
ENST00000325888.12:c.1186A>G ENSP00000327145.8:p.Thr396Ala
ENST00000346177.6:c.1186A>G ENSP00000344002.6:p.Thr396Ala
NM_001127487.1:c.1186A>G NP_001120959.1:p.Thr396Ala
NM_001458.4:c.1186A>G , LRG_870t1:c.1186A>G NP_001449.3:p.Thr396Ala
NM_001127487.2:c.1186A>G NP_001120959.1:p.Thr396Ala
NM_001458.5:c.1186A>G MANE Select NP_001449.3:p.Thr396Ala