Canonical Allele Identifier: CA369216620
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 478131
ClinVar RCV Id: RCV000542796
dbSNP Id: rs1554401756
MyVariant Identifiers: chr7:g.128496614C>T (hg19) chr7:g.128856560C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128856560C>T , CM000669.2:g.128856560C>T GRCh38
NC_000007.13:g.128496614C>T , CM000669.1:g.128496614C>T GRCh37
NC_000007.12:g.128283850C>T NCBI36
NG_011807.1:g.31132C>T , LRG_870:g.31132C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.7294C>T (FLNC) MANE Select ENSP00000327145.8:p.Gln2432Ter
ENST00000325888.12:c.7294C>T (FLNC) ENSP00000327145.8:p.Gln2432Ter
ENST00000346177.6:c.7195C>T (FLNC) ENSP00000344002.6:p.Gln2399Ter
NM_001127487.1:c.7195C>T (FLNC) NP_001120959.1:p.Gln2399Ter
NM_001458.4:c.7294C>T , LRG_870t1:c.7294C>T (FLNC) NP_001449.3:p.Gln2432Ter
NR_149055.1:n.103-3163G>A (FLNC-AS1)
NM_001127487.2:c.7195C>T (FLNC) NP_001120959.1:p.Gln2399Ter
NM_001458.5:c.7294C>T (FLNC) MANE Select NP_001449.3:p.Gln2432Ter
Search 100 bp 5'
Search 100 bp 3'