Canonical Allele Identifier: CA2499218747
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1071678
ClinVar RCV Id: RCV001384199
dbSNP Id: rs2128938360
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128851261_128851270del , CM000669.2:g.128851261_128851270del GRCh38
NC_000007.13:g.128491315_128491324del , CM000669.1:g.128491315_128491324del GRCh37
NC_000007.12:g.128278551_128278560del NCBI36
NG_011807.1:g.25833_25842del , LRG_870:g.25833_25842del

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.5569_5578del (FLNC) MANE Select ENSP00000327145.8:p.Ile1857AlafsTer10
ENST00000325888.12:c.5569_5578del (FLNC) ENSP00000327145.8:p.Ile1857AlafsTer10
ENST00000346177.6:c.5470_5479del (FLNC) ENSP00000344002.6:p.Ile1824AlafsTer10
NM_001127487.1:c.5470_5479del (FLNC) NP_001120959.1:p.Ile1824AlafsTer10
NM_001458.4:c.5569_5578del , LRG_870t1:c.5569_5578del (FLNC) NP_001449.3:p.Ile1857AlafsTer10
NR_149055.1:n.315+134_315+143del (FLNC-AS1)
NM_001127487.2:c.5470_5479del (FLNC) NP_001120959.1:p.Ile1824AlafsTer10
NM_001458.5:c.5569_5578del (FLNC) MANE Select NP_001449.3:p.Ile1857AlafsTer10
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Search 100 bp 3'