Canonical Allele Identifier: CA4476378
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 835906
ClinVar RCV Id: RCV001036904
dbSNP Id: rs767277303
ExAC: 7:128498173 TCTC / T
gnomAD v2: 7-128498173-TCTC-T
gnomAD v4: 7-128858119-TCTC-T
MyVariant Identifiers: chr7:g.128498174_128498176del (hg19) chr7:g.128858120_128858122del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128858123_128858125del , CM000669.2:g.128858123_128858125del GRCh38
NC_000007.13:g.128498177_128498179del , CM000669.1:g.128498177_128498179del GRCh37
NC_000007.12:g.128285413_128285415del NCBI36
NG_011807.1:g.32695_32697del , LRG_870:g.32695_32697del

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.7896_7898del (FLNC) MANE Select ENSP00000327145.8:p.Ser2633del
ENST00000325888.12:c.7896_7898del (FLNC) ENSP00000327145.8:p.Ser2633del
ENST00000346177.6:c.7797_7799del (FLNC) ENSP00000344002.6:p.Ser2600del
NM_001127487.1:c.7797_7799del (FLNC) NP_001120959.1:p.Ser2600del
NM_001458.4:c.7896_7898del , LRG_870t1:c.7896_7898del (FLNC) NP_001449.3:p.Ser2633del
NR_149055.1:n.102+4403_102+4405del (FLNC-AS1)
NM_001127487.2:c.7797_7799del (FLNC) NP_001120959.1:p.Ser2600del
NM_001458.5:c.7896_7898del (FLNC) MANE Select NP_001449.3:p.Ser2633del
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