Canonical Allele Identifier: CA369212745
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1042329
ClinVar RCV Id: RCV001346263
dbSNP Id: rs1358590777
gnomAD v2: 7-128494066-A-C
gnomAD v3: 7-128854012-A-C
gnomAD v4: 7-128854012-A-C
MyVariant Identifiers: chr7:g.128494066A>C (hg19) chr7:g.128854012A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128854012A>C , CM000669.2:g.128854012A>C GRCh38
NC_000007.13:g.128494066A>C , CM000669.1:g.128494066A>C GRCh37
NC_000007.12:g.128281302A>C NCBI36
NG_011807.1:g.28584A>C , LRG_870:g.28584A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.6523A>C (FLNC) MANE Select ENSP00000327145.8:p.Thr2175Pro
ENST00000325888.12:c.6523A>C (FLNC) ENSP00000327145.8:p.Thr2175Pro
ENST00000346177.6:c.6424A>C (FLNC) ENSP00000344002.6:p.Thr2142Pro
NM_001127487.1:c.6424A>C (FLNC) NP_001120959.1:p.Thr2142Pro
NM_001458.4:c.6523A>C , LRG_870t1:c.6523A>C (FLNC) NP_001449.3:p.Thr2175Pro
NR_149055.1:n.103-615T>G (FLNC-AS1)
NM_001127487.2:c.6424A>C (FLNC) NP_001120959.1:p.Thr2142Pro
NM_001458.5:c.6523A>C (FLNC) MANE Select NP_001449.3:p.Thr2175Pro
Search 100 bp 5'
Search 100 bp 3'