Canonical Allele Identifier: CA457592422
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2954099
ClinVar RCV Id: RCV003813322
MyVariant Identifiers: chr7:g.128498568G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128858514G>A , CM000669.2:g.128858514G>A GRCh38
NC_000007.13:g.128498568G>A , CM000669.1:g.128498568G>A GRCh37
NC_000007.12:g.128285804G>A NCBI36
NG_011807.1:g.33086G>A , LRG_870:g.33086G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.8169G>A (FLNC) MANE Select ENSP00000327145.8:p.Lys2723=
ENST00000325888.12:c.8169G>A (FLNC) ENSP00000327145.8:p.Lys2723=
ENST00000346177.6:c.8070G>A (FLNC) ENSP00000344002.6:p.Lys2690=
NM_001127487.1:c.8070G>A (FLNC) NP_001120959.1:p.Lys2690=
NM_001458.4:c.8169G>A , LRG_870t1:c.8169G>A (FLNC) NP_001449.3:p.Lys2723=
NR_149055.1:n.102+4011C>T (FLNC-AS1)
NM_001127487.2:c.8070G>A (FLNC) NP_001120959.1:p.Lys2690=
NM_001458.5:c.8169G>A (FLNC) MANE Select NP_001449.3:p.Lys2723=