Canonical Allele Identifier: CA2740097565
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 2951186
ClinVar RCV Id: RCV003802448
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128843570_128843573dup , CM000669.2:g.128843570_128843573dup GRCh38
NC_000007.13:g.128483624_128483627dup , CM000669.1:g.128483624_128483627dup GRCh37
NC_000007.12:g.128270860_128270863dup NCBI36
NG_011807.1:g.18142_18145dup , LRG_870:g.18142_18145dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.2804_2807dup MANE Select ENSP00000327145.8:p.Gln936HisfsTer?
ENST00000325888.12:c.2804_2807dup ENSP00000327145.8:p.Gln936HisfsTer?
ENST00000346177.6:c.2804_2807dup ENSP00000344002.6:p.Gln936HisfsTer?
NM_001127487.1:c.2804_2807dup NP_001120959.1:p.Gln936HisfsTer?
NM_001458.4:c.2804_2807dup , LRG_870t1:c.2804_2807dup NP_001449.3:p.Gln936HisfsTer?
NM_001127487.2:c.2804_2807dup NP_001120959.1:p.Gln936HisfsTer?
NM_001458.5:c.2804_2807dup MANE Select NP_001449.3:p.Gln936HisfsTer?
Search 100 bp 5'
Search 100 bp 3'