Canonical Allele Identifier: CA369211467

Gene: FLNC FLNC-AS1

Linked Data

• dbSNP Id: rs1185192778
• gnomAD v2: 7-128493036-G-T
• MyVariant Identifiers: chr7:g.128493036G>T (hg19) ; chr7:g.128852982G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128852982G>T , CM000669.2:g.128852982G>T	GRCh38
NC_000007.13:g.128493036G>T , CM000669.1:g.128493036G>T	GRCh37
NC_000007.12:g.128280272G>T	NCBI36
NG_011807.1:g.27554G>T , LRG_870:g.27554G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.6159G>T (FLNC) MANE Select	ENSP00000327145.8:p.Glu2053Asp
ENST00000325888.12:c.6159G>T (FLNC)	ENSP00000327145.8:p.Glu2053Asp
ENST00000346177.6:c.6060G>T (FLNC)	ENSP00000344002.6:p.Glu2020Asp
NM_001127487.1:c.6060G>T (FLNC)	NP_001120959.1:p.Glu2020Asp
NM_001458.4:c.6159G>T , LRG_870t1:c.6159G>T (FLNC)	NP_001449.3:p.Glu2053Asp
NR_149055.1:n.215+303C>A (FLNC-AS1)
NM_001127487.2:c.6060G>T (FLNC)	NP_001120959.1:p.Glu2020Asp
NM_001458.5:c.6159G>T (FLNC) MANE Select	NP_001449.3:p.Glu2053Asp