Canonical Allele Identifier: CA369208548
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 636849
ClinVar RCV Id: RCV000788797
dbSNP Id: rs1585166795
MyVariant Identifiers: chr7:g.128491650T>A (hg19) chr7:g.128851596T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128851596T>A , CM000669.2:g.128851596T>A GRCh38
NC_000007.13:g.128491650T>A , CM000669.1:g.128491650T>A GRCh37
NC_000007.12:g.128278886T>A NCBI36
NG_011807.1:g.26168T>A , LRG_870:g.26168T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.5810T>A (FLNC) MANE Select ENSP00000327145.8:p.Ile1937Asn
ENST00000325888.12:c.5810T>A (FLNC) ENSP00000327145.8:p.Ile1937Asn
ENST00000346177.6:c.5711T>A (FLNC) ENSP00000344002.6:p.Ile1904Asn
NM_001127487.1:c.5711T>A (FLNC) NP_001120959.1:p.Ile1904Asn
NM_001458.4:c.5810T>A , LRG_870t1:c.5810T>A (FLNC) NP_001449.3:p.Ile1937Asn
NR_149055.1:n.216-96A>T (FLNC-AS1)
NM_001127487.2:c.5711T>A (FLNC) NP_001120959.1:p.Ile1904Asn
NM_001458.5:c.5810T>A (FLNC) MANE Select NP_001449.3:p.Ile1937Asn
Search 100 bp 5'
Search 100 bp 3'