Canonical Allele Identifier: CA369227200
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 2934043
ClinVar RCV Id: RCV003795793
MyVariant Identifiers: chr7:g.128481257T>A (hg19) chr7:g.128841203T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128841203T>A , CM000669.2:g.128841203T>A GRCh38
NC_000007.13:g.128481257T>A , CM000669.1:g.128481257T>A GRCh37
NC_000007.12:g.128268493T>A NCBI36
NG_011807.1:g.15775T>A , LRG_870:g.15775T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.1847T>A MANE Select ENSP00000327145.8:p.Ile616Asn
ENST00000325888.12:c.1847T>A ENSP00000327145.8:p.Ile616Asn
ENST00000346177.6:c.1847T>A ENSP00000344002.6:p.Ile616Asn
NM_001127487.1:c.1847T>A NP_001120959.1:p.Ile616Asn
NM_001458.4:c.1847T>A , LRG_870t1:c.1847T>A NP_001449.3:p.Ile616Asn
NM_001127487.2:c.1847T>A NP_001120959.1:p.Ile616Asn
NM_001458.5:c.1847T>A MANE Select NP_001449.3:p.Ile616Asn
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