Canonical Allele Identifier: CA369211229
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 539428
ClinVar RCV Id: RCV000649162
dbSNP Id: rs1554400980

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128852918T>C , CM000669.2:g.128852918T>C GRCh38
NC_000007.13:g.128492972T>C , CM000669.1:g.128492972T>C GRCh37
NC_000007.12:g.128280208T>C NCBI36
NG_011807.1:g.27490T>C , LRG_870:g.27490T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.6095T>C (FLNC) MANE Select ENSP00000327145.8:p.Leu2032Pro
ENST00000325888.12:c.6095T>C (FLNC) ENSP00000327145.8:p.Leu2032Pro
ENST00000346177.6:c.5996T>C (FLNC) ENSP00000344002.6:p.Leu1999Pro
NM_001127487.1:c.5996T>C (FLNC) NP_001120959.1:p.Leu1999Pro
NM_001458.4:c.6095T>C , LRG_870t1:c.6095T>C (FLNC) NP_001449.3:p.Leu2032Pro
NR_149055.1:n.215+367A>G (FLNC-AS1)
NM_001127487.2:c.5996T>C (FLNC) NP_001120959.1:p.Leu1999Pro
NM_001458.5:c.6095T>C (FLNC) MANE Select NP_001449.3:p.Leu2032Pro