Canonical Allele Identifier: CA369196578

Gene: FLNC

Linked Data

• ClinVar Variation Id: 2928968
• ClinVar RCV Id: RCV003781694
• MyVariant Identifiers: chr7:g.128484868T>G (hg19) ; chr7:g.128844814T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128844814T>G , CM000669.2:g.128844814T>G	GRCh38
NC_000007.13:g.128484868T>G , CM000669.1:g.128484868T>G	GRCh37
NC_000007.12:g.128272104T>G	NCBI36
NG_011807.1:g.19386T>G , LRG_870:g.19386T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.3349T>G MANE Select	ENSP00000327145.8:p.Cys1117Gly
ENST00000325888.12:c.3349T>G	ENSP00000327145.8:p.Cys1117Gly
ENST00000346177.6:c.3349T>G	ENSP00000344002.6:p.Cys1117Gly
NM_001127487.1:c.3349T>G	NP_001120959.1:p.Cys1117Gly
NM_001458.4:c.3349T>G , LRG_870t1:c.3349T>G	NP_001449.3:p.Cys1117Gly
NM_001127487.2:c.3349T>G	NP_001120959.1:p.Cys1117Gly
NM_001458.5:c.3349T>G MANE Select	NP_001449.3:p.Cys1117Gly