Canonical Allele Identifier: CA166196736
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1226502
ClinVar RCV Id: RCV001615767
dbSNP Id: rs60473969
gnomAD v2: 7-128498630-TAC-T
gnomAD v3: 7-128858576-TAC-T
gnomAD v4: 7-128858576-TAC-T
COSMIC: COSN20104766 COSN20104767
MyVariant Identifiers: chr7:g.128498635_128498636del (hg19) chr7:g.128498631_128498632del (hg19) chr7:g.128858581_128858582del (hg38) chr7:g.128858577_128858578del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128858598_128858599del , CM000669.2:g.128858598_128858599del GRCh38
NC_000007.13:g.128498652_128498653del , CM000669.1:g.128498652_128498653del GRCh37
NC_000007.12:g.128285888_128285889del NCBI36
NG_011807.1:g.33170_33171del , LRG_870:g.33170_33171del

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.*75_*76del (FLNC) MANE Select ENSP00000327145.8:n.*75_*76del
ENST00000325888.12:c.*75_*76del (FLNC) ENSP00000327145.8:n.*75_*76del
ENST00000346177.6:c.*75_*76del (FLNC) ENSP00000344002.6:n.*75_*76del
NM_001127487.1:c.*75_*76del (FLNC) NP_001120959.1:n.*75_*76del
NM_001458.4:c.*75_*76del , LRG_870t1:c.*75_*76del (FLNC) NP_001449.3:n.*75_*76del
NR_149055.1:n.102+3947_102+3948del (FLNC-AS1)
NM_001127487.2:c.*75_*76del (FLNC) NP_001120959.1:n.*75_*76del
NM_001458.5:c.*75_*76del (FLNC) MANE Select NP_001449.3:n.*75_*76del
Search 100 bp 5'
Search 100 bp 3'