Canonical Allele Identifier: CA457592460
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1573583
ClinVar RCV Id: RCV002207992
dbSNP Id: rs374175186
MyVariant Identifiers: chr7:g.128498574T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128858520T>C , CM000669.2:g.128858520T>C GRCh38
NC_000007.13:g.128498574T>C , CM000669.1:g.128498574T>C GRCh37
NC_000007.12:g.128285810T>C NCBI36
NG_011807.1:g.33092T>C , LRG_870:g.33092T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.8175T>C (FLNC) MANE Select ENSP00000327145.8:p.Pro2725=
ENST00000325888.12:c.8175T>C (FLNC) ENSP00000327145.8:p.Pro2725=
ENST00000346177.6:c.8076T>C (FLNC) ENSP00000344002.6:p.Pro2692=
NM_001127487.1:c.8076T>C (FLNC) NP_001120959.1:p.Pro2692=
NM_001458.4:c.8175T>C , LRG_870t1:c.8175T>C (FLNC) NP_001449.3:p.Pro2725=
NR_149055.1:n.102+4005A>G (FLNC-AS1)
NM_001127487.2:c.8076T>C (FLNC) NP_001120959.1:p.Pro2692=
NM_001458.5:c.8175T>C (FLNC) MANE Select NP_001449.3:p.Pro2725=