Canonical Allele Identifier: CA4476002
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 472135
ClinVar RCV Id: RCV000536231 RCV000597985
dbSNP Id: rs369347947
ExAC: 7:128494020 C / T
gnomAD v2: 7-128494020-C-T
gnomAD v3: 7-128853966-C-T
gnomAD v4: 7-128853966-C-T
MyVariant Identifiers: chr7:g.128494020C>T (hg19) chr7:g.128853966C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128853966C>T , CM000669.2:g.128853966C>T GRCh38
NC_000007.13:g.128494020C>T , CM000669.1:g.128494020C>T GRCh37
NC_000007.12:g.128281256C>T NCBI36
NG_011807.1:g.28538C>T , LRG_870:g.28538C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.6485-8C>T (FLNC) MANE Select ENSP00000327145.8:n.6485-8C>T
ENST00000325888.12:c.6485-8C>T (FLNC) ENSP00000327145.8:n.6485-8C>T
ENST00000346177.6:c.6386-8C>T (FLNC) ENSP00000344002.6:n.6386-8C>T
NM_001127487.1:c.6386-8C>T (FLNC) NP_001120959.1:n.6386-8C>T
NM_001458.4:c.6485-8C>T , LRG_870t1:c.6485-8C>T (FLNC) NP_001449.3:n.6485-8C>T
NR_149055.1:n.103-569G>A (FLNC-AS1)
NM_001127487.2:c.6386-8C>T (FLNC) NP_001120959.1:n.6386-8C>T
NM_001458.5:c.6485-8C>T (FLNC) MANE Select NP_001449.3:n.6485-8C>T
Search 100 bp 5'
Search 100 bp 3'