Canonical Allele Identifier: CA4475711
Community Standard Title: NM_001458.5(FLNC):c.5500C>T (p.His1834Tyr)
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128850904C>T , CM000669.2:g.128850904C>T GRCh38
NC_000007.13:g.128490958C>T , CM000669.1:g.128490958C>T GRCh37
NC_000007.12:g.128278194C>T NCBI36
NG_011807.1:g.25476C>T , LRG_870:g.25476C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001458.5:c.5500C>T (FLNC) MANE Select NP_001449.3:p.His1834Tyr
ENST00000325888.13:c.5500C>T (FLNC) MANE Select ENSP00000327145.8:p.His1834Tyr
NM_001127487.1:c.5401C>T (FLNC) NP_001120959.1:p.His1801Tyr
NM_001127487.2:c.5401C>T (FLNC) NP_001120959.1:p.His1801Tyr
NM_001458.4:c.5500C>T , LRG_870t1:c.5500C>T (FLNC) NP_001449.3:p.His1834Tyr
NR_149055.1:n.315+497G>A (FLNC-AS1)
ENST00000325888.12:c.5500C>T (FLNC) ENSP00000327145.8:p.His1834Tyr
ENST00000346177.6:c.5401C>T (FLNC) ENSP00000344002.6:p.His1801Tyr