Canonical Allele Identifier: CA4476013

Gene: FLNC FLNC-AS1

Linked Data

• dbSNP Id: rs772588219
• ExAC: 7:128494094 C / T
• gnomAD v2: 7-128494094-C-T
• gnomAD v4: 7-128854040-C-T
• MyVariant Identifiers: chr7:g.128494094C>T (hg19) ; chr7:g.128854040C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128854040C>T , CM000669.2:g.128854040C>T	GRCh38
NC_000007.13:g.128494094C>T , CM000669.1:g.128494094C>T	GRCh37
NC_000007.12:g.128281330C>T	NCBI36
NG_011807.1:g.28612C>T , LRG_870:g.28612C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.6551C>T (FLNC) MANE Select	ENSP00000327145.8:p.Thr2184Ile
ENST00000325888.12:c.6551C>T (FLNC)	ENSP00000327145.8:p.Thr2184Ile
ENST00000346177.6:c.6452C>T (FLNC)	ENSP00000344002.6:p.Thr2151Ile
NM_001127487.1:c.6452C>T (FLNC)	NP_001120959.1:p.Thr2151Ile
NM_001458.4:c.6551C>T , LRG_870t1:c.6551C>T (FLNC)	NP_001449.3:p.Thr2184Ile
NR_149055.1:n.103-643G>A (FLNC-AS1)
NM_001127487.2:c.6452C>T (FLNC)	NP_001120959.1:p.Thr2151Ile
NM_001458.5:c.6551C>T (FLNC) MANE Select	NP_001449.3:p.Thr2184Ile