Canonical Allele Identifier: CA457582897
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 1544950
ClinVar RCV Id: RCV002165425
dbSNP Id: rs2128934900
MyVariant Identifiers: chr7:g.128480204C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128840150C>G , CM000669.2:g.128840150C>G GRCh38
NC_000007.13:g.128480204C>G , CM000669.1:g.128480204C>G GRCh37
NC_000007.12:g.128267440C>G NCBI36
NG_011807.1:g.14722C>G , LRG_870:g.14722C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.1539C>G MANE Select ENSP00000327145.8:p.Val513=
ENST00000325888.12:c.1539C>G ENSP00000327145.8:p.Val513=
ENST00000346177.6:c.1539C>G ENSP00000344002.6:p.Val513=
NM_001127487.1:c.1539C>G NP_001120959.1:p.Val513=
NM_001458.4:c.1539C>G , LRG_870t1:c.1539C>G NP_001449.3:p.Val513=
NM_001127487.2:c.1539C>G NP_001120959.1:p.Val513=
NM_001458.5:c.1539C>G MANE Select NP_001449.3:p.Val513=
Search 100 bp 5'
Search 100 bp 3'