Canonical Allele Identifier: CA369221292

Gene: FLNC FLNC-AS1

Linked Data

• ClinVar Variation Id: 1991494
• ClinVar RCV Id: RCV002790661
• MyVariant Identifiers: chr7:g.128498432C>T (hg19) ; chr7:g.128858378C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128858378C>T , CM000669.2:g.128858378C>T	GRCh38
NC_000007.13:g.128498432C>T , CM000669.1:g.128498432C>T	GRCh37
NC_000007.12:g.128285668C>T	NCBI36
NG_011807.1:g.32950C>T , LRG_870:g.32950C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000325888.13:c.8033C>T (FLNC) MANE Select	ENSP00000327145.8:p.Pro2678Leu
ENST00000325888.12:c.8033C>T (FLNC)	ENSP00000327145.8:p.Pro2678Leu
ENST00000346177.6:c.7934C>T (FLNC)	ENSP00000344002.6:p.Pro2645Leu
NM_001127487.1:c.7934C>T (FLNC)	NP_001120959.1:p.Pro2645Leu
NM_001458.4:c.8033C>T , LRG_870t1:c.8033C>T (FLNC)	NP_001449.3:p.Pro2678Leu
NR_149055.1:n.102+4147G>A (FLNC-AS1)
NM_001127487.2:c.7934C>T (FLNC)	NP_001120959.1:p.Pro2645Leu
NM_001458.5:c.8033C>T (FLNC) MANE Select	NP_001449.3:p.Pro2678Leu