Canonical Allele Identifier: CA457847827
Gene: FLNC HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.128482909T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128842855T>A , CM000669.2:g.128842855T>A GRCh38
NC_000007.13:g.128482909T>A , CM000669.1:g.128482909T>A GRCh37
NC_000007.12:g.128270145T>A NCBI36
NG_011807.1:g.17427T>A , LRG_870:g.17427T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.2451T>A MANE Select ENSP00000327145.8:p.Ile817=
ENST00000325888.12:c.2451T>A ENSP00000327145.8:p.Ile817=
ENST00000346177.6:c.2451T>A ENSP00000344002.6:p.Ile817=
ENST00000388853.3:n.567T>A
NM_001127487.1:c.2451T>A NP_001120959.1:p.Ile817=
NM_001458.4:c.2451T>A , LRG_870t1:c.2451T>A NP_001449.3:p.Ile817=
NM_001127487.2:c.2451T>A NP_001120959.1:p.Ile817=
NM_001458.5:c.2451T>A MANE Select NP_001449.3:p.Ile817=