Canonical Allele Identifier: CA369196582

Gene: FLNC

Linked Data

• ClinVar Variation Id: 2101654
• ClinVar RCV Id: RCV003026183
• MyVariant Identifiers: chr7:g.128484869G>T (hg19) ; chr7:g.128844815G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128844815G>T , CM000669.2:g.128844815G>T	GRCh38
NC_000007.13:g.128484869G>T , CM000669.1:g.128484869G>T	GRCh37
NC_000007.12:g.128272105G>T	NCBI36
NG_011807.1:g.19387G>T , LRG_870:g.19387G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.3350G>T MANE Select	ENSP00000327145.8:p.Cys1117Phe
ENST00000325888.12:c.3350G>T	ENSP00000327145.8:p.Cys1117Phe
ENST00000346177.6:c.3350G>T	ENSP00000344002.6:p.Cys1117Phe
NM_001127487.1:c.3350G>T	NP_001120959.1:p.Cys1117Phe
NM_001458.4:c.3350G>T , LRG_870t1:c.3350G>T	NP_001449.3:p.Cys1117Phe
NM_001127487.2:c.3350G>T	NP_001120959.1:p.Cys1117Phe
NM_001458.5:c.3350G>T MANE Select	NP_001449.3:p.Cys1117Phe