Canonical Allele Identifier: CA369219911

Gene: FLNC FLNC-AS1

Linked Data

• ClinVar Variation Id: 1760424
• ClinVar RCV Id: RCV002400800 ; RCV003776436
• dbSNP Id: rs1809108010
• gnomAD v3: 7-128857304-T-C
• gnomAD v4: 7-128857304-T-C
• MyVariant Identifiers: chr7:g.128497358T>C (hg19) ; chr7:g.128857304T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128857304T>C , CM000669.2:g.128857304T>C	GRCh38
NC_000007.13:g.128497358T>C , CM000669.1:g.128497358T>C	GRCh37
NC_000007.12:g.128284594T>C	NCBI36
NG_011807.1:g.31876T>C , LRG_870:g.31876T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.7748T>C (FLNC) MANE Select	ENSP00000327145.8:p.Ile2583Thr
ENST00000325888.12:c.7748T>C (FLNC)	ENSP00000327145.8:p.Ile2583Thr
ENST00000346177.6:c.7649T>C (FLNC)	ENSP00000344002.6:p.Ile2550Thr
NM_001127487.1:c.7649T>C (FLNC)	NP_001120959.1:p.Ile2550Thr
NM_001458.4:c.7748T>C , LRG_870t1:c.7748T>C (FLNC)	NP_001449.3:p.Ile2583Thr
NR_149055.1:n.103-3907A>G (FLNC-AS1)
NM_001127487.2:c.7649T>C (FLNC)	NP_001120959.1:p.Ile2550Thr
NM_001458.5:c.7748T>C (FLNC) MANE Select	NP_001449.3:p.Ile2583Thr