Canonical Allele Identifier: CA369222247
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1400221
ClinVar RCV Id: RCV001918080
dbSNP Id: rs1220183666
gnomAD v3: 7-128858515-G-T
gnomAD v4: 7-128858515-G-T
MyVariant Identifiers: chr7:g.128498569G>T (hg19) chr7:g.128858515G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128858515G>T , CM000669.2:g.128858515G>T GRCh38
NC_000007.13:g.128498569G>T , CM000669.1:g.128498569G>T GRCh37
NC_000007.12:g.128285805G>T NCBI36
NG_011807.1:g.33087G>T , LRG_870:g.33087G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.8170G>T (FLNC) MANE Select ENSP00000327145.8:p.Val2724Phe
ENST00000325888.12:c.8170G>T (FLNC) ENSP00000327145.8:p.Val2724Phe
ENST00000346177.6:c.8071G>T (FLNC) ENSP00000344002.6:p.Val2691Phe
NM_001127487.1:c.8071G>T (FLNC) NP_001120959.1:p.Val2691Phe
NM_001458.4:c.8170G>T , LRG_870t1:c.8170G>T (FLNC) NP_001449.3:p.Val2724Phe
NR_149055.1:n.102+4010C>A (FLNC-AS1)
NM_001127487.2:c.8071G>T (FLNC) NP_001120959.1:p.Val2691Phe
NM_001458.5:c.8170G>T (FLNC) MANE Select NP_001449.3:p.Val2724Phe
Search 100 bp 5'
Search 100 bp 3'