Canonical Allele Identifier: CA369227178
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 2446902
ClinVar RCV Id: RCV003164890
MyVariant Identifiers: chr7:g.128481247C>T (hg19) chr7:g.128841193C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128841193C>T , CM000669.2:g.128841193C>T GRCh38
NC_000007.13:g.128481247C>T , CM000669.1:g.128481247C>T GRCh37
NC_000007.12:g.128268483C>T NCBI36
NG_011807.1:g.15765C>T , LRG_870:g.15765C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.1837C>T MANE Select ENSP00000327145.8:p.Gln613Ter
ENST00000325888.12:c.1837C>T ENSP00000327145.8:p.Gln613Ter
ENST00000346177.6:c.1837C>T ENSP00000344002.6:p.Gln613Ter
NM_001127487.1:c.1837C>T NP_001120959.1:p.Gln613Ter
NM_001458.4:c.1837C>T , LRG_870t1:c.1837C>T NP_001449.3:p.Gln613Ter
NM_001127487.2:c.1837C>T NP_001120959.1:p.Gln613Ter
NM_001458.5:c.1837C>T MANE Select NP_001449.3:p.Gln613Ter
Search 100 bp 5'
Search 100 bp 3'