Canonical Allele Identifier: CA12619184
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1239587
ClinVar RCV Id: RCV001636495
dbSNP Id: rs115660695
gnomAD v2: 7-128493946-G-C
gnomAD v3: 7-128853892-G-C
gnomAD v4: 7-128853892-G-C
MyVariant Identifiers: chr7:g.128493946G>C (hg19) chr7:g.128853892G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128853892G>C , CM000669.2:g.128853892G>C GRCh38
NC_000007.13:g.128493946G>C , CM000669.1:g.128493946G>C GRCh37
NC_000007.12:g.128281182G>C NCBI36
NG_011807.1:g.28464G>C , LRG_870:g.28464G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.6484+55G>C (FLNC) MANE Select ENSP00000327145.8:n.6484+55G>C
ENST00000325888.12:c.6484+55G>C (FLNC) ENSP00000327145.8:n.6484+55G>C
ENST00000346177.6:c.6385+55G>C (FLNC) ENSP00000344002.6:n.6385+55G>C
NM_001127487.1:c.6385+55G>C (FLNC) NP_001120959.1:n.6385+55G>C
NM_001458.4:c.6484+55G>C , LRG_870t1:c.6484+55G>C (FLNC) NP_001449.3:n.6484+55G>C
NR_149055.1:n.103-495C>G (FLNC-AS1)
NM_001127487.2:c.6385+55G>C (FLNC) NP_001120959.1:n.6385+55G>C
NM_001458.5:c.6484+55G>C (FLNC) MANE Select NP_001449.3:n.6484+55G>C
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