Canonical Allele Identifier: CA369196896
Gene: FLNC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128844904G>A , CM000669.2:g.128844904G>A GRCh38
NC_000007.13:g.128484958G>A , CM000669.1:g.128484958G>A GRCh37
NC_000007.12:g.128272194G>A NCBI36
NG_011807.1:g.19476G>A , LRG_870:g.19476G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.3439G>A MANE Select ENSP00000327145.8:p.Ala1147Thr
ENST00000325888.12:c.3439G>A ENSP00000327145.8:p.Ala1147Thr
ENST00000346177.6:c.3439G>A ENSP00000344002.6:p.Ala1147Thr
NM_001127487.1:c.3439G>A NP_001120959.1:p.Ala1147Thr
NM_001458.4:c.3439G>A , LRG_870t1:c.3439G>A NP_001449.3:p.Ala1147Thr
NM_001127487.2:c.3439G>A NP_001120959.1:p.Ala1147Thr
NM_001458.5:c.3439G>A MANE Select NP_001449.3:p.Ala1147Thr