Canonical Allele Identifier: CA369212589
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 539403
ClinVar RCV Id: RCV000649133
dbSNP Id: rs1554401153
MyVariant Identifiers: chr7:g.128493867T>A (hg19) chr7:g.128853813T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128853813T>A , CM000669.2:g.128853813T>A GRCh38
NC_000007.13:g.128493867T>A , CM000669.1:g.128493867T>A GRCh37
NC_000007.12:g.128281103T>A NCBI36
NG_011807.1:g.28385T>A , LRG_870:g.28385T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.6460T>A (FLNC) MANE Select ENSP00000327145.8:p.Cys2154Ser
ENST00000325888.12:c.6460T>A (FLNC) ENSP00000327145.8:p.Cys2154Ser
ENST00000346177.6:c.6361T>A (FLNC) ENSP00000344002.6:p.Cys2121Ser
NM_001127487.1:c.6361T>A (FLNC) NP_001120959.1:p.Cys2121Ser
NM_001458.4:c.6460T>A , LRG_870t1:c.6460T>A (FLNC) NP_001449.3:p.Cys2154Ser
NR_149055.1:n.103-416A>T (FLNC-AS1)
NM_001127487.2:c.6361T>A (FLNC) NP_001120959.1:p.Cys2121Ser
NM_001458.5:c.6460T>A (FLNC) MANE Select NP_001449.3:p.Cys2154Ser
Search 100 bp 5'
Search 100 bp 3'