Canonical Allele Identifier: CA128479
Community Standard Title: NM_001458.5(FLNC):c.577G>A (p.Ala193Thr)
Gene: FLNC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128835550G>A , CM000669.2:g.128835550G>A GRCh38
NC_000007.13:g.128475604G>A , CM000669.1:g.128475604G>A GRCh37
NC_000007.12:g.128262840G>A NCBI36
NG_011807.1:g.10122G>A , LRG_870:g.10122G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001458.5:c.577G>A MANE Select NP_001449.3:p.Ala193Thr
ENST00000325888.13:c.577G>A MANE Select ENSP00000327145.8:p.Ala193Thr
NM_001127487.1:c.577G>A NP_001120959.1:p.Ala193Thr
NM_001127487.2:c.577G>A NP_001120959.1:p.Ala193Thr
NM_001458.4:c.577G>A , LRG_870t1:c.577G>A NP_001449.3:p.Ala193Thr
ENST00000325888.12:c.577G>A ENSP00000327145.8:p.Ala193Thr
ENST00000346177.6:c.577G>A ENSP00000344002.6:p.Ala193Thr
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