Canonical Allele Identifier: CA578150603
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2168309
ClinVar RCV Id: RCV003082495
dbSNP Id: rs1286434742
gnomAD v2: 7-128491430-G-T
MyVariant Identifiers: chr7:g.128491430G>T (hg19) chr7:g.128851376G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128851376G>T , CM000669.2:g.128851376G>T GRCh38
NC_000007.13:g.128491430G>T , CM000669.1:g.128491430G>T GRCh37
NC_000007.12:g.128278666G>T NCBI36
NG_011807.1:g.25948G>T , LRG_870:g.25948G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.5668+16G>T (FLNC) MANE Select ENSP00000327145.8:n.5668+16G>T
ENST00000325888.12:c.5668+16G>T (FLNC) ENSP00000327145.8:n.5668+16G>T
ENST00000346177.6:c.5569+16G>T (FLNC) ENSP00000344002.6:n.5569+16G>T
NM_001127487.1:c.5569+16G>T (FLNC) NP_001120959.1:n.5569+16G>T
NM_001458.4:c.5668+16G>T , LRG_870t1:c.5668+16G>T (FLNC) NP_001449.3:n.5668+16G>T
NR_149055.1:n.315+25C>A (FLNC-AS1)
NM_001127487.2:c.5569+16G>T (FLNC) NP_001120959.1:n.5569+16G>T
NM_001458.5:c.5668+16G>T (FLNC) MANE Select NP_001449.3:n.5668+16G>T
Search 100 bp 5'
Search 100 bp 3'