Canonical Allele Identifier: CA578150595
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2165397
ClinVar RCV Id: RCV003084350
dbSNP Id: rs1393131696
gnomAD v2: 7-128492824-C-T
gnomAD v4: 7-128852770-C-T
MyVariant Identifiers: chr7:g.128492824C>T (hg19) chr7:g.128852770C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128852770C>T , CM000669.2:g.128852770C>T GRCh38
NC_000007.13:g.128492824C>T , CM000669.1:g.128492824C>T GRCh37
NC_000007.12:g.128280060C>T NCBI36
NG_011807.1:g.27342C>T , LRG_870:g.27342C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.6004+18C>T (FLNC) MANE Select ENSP00000327145.8:n.6004+18C>T
ENST00000325888.12:c.6004+18C>T (FLNC) ENSP00000327145.8:n.6004+18C>T
ENST00000346177.6:c.5905+18C>T (FLNC) ENSP00000344002.6:n.5905+18C>T
NM_001127487.1:c.5905+18C>T (FLNC) NP_001120959.1:n.5905+18C>T
NM_001458.4:c.6004+18C>T , LRG_870t1:c.6004+18C>T (FLNC) NP_001449.3:n.6004+18C>T
NR_149055.1:n.215+515G>A (FLNC-AS1)
NM_001127487.2:c.5905+18C>T (FLNC) NP_001120959.1:n.5905+18C>T
NM_001458.5:c.6004+18C>T (FLNC) MANE Select NP_001449.3:n.6004+18C>T
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