Canonical Allele Identifier: CA1742564518

Gene: FLNC

Linked Data

• ClinVar Variation Id: 1023351
• ClinVar RCV Id: RCV001323380
• dbSNP Id: rs1808713133

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128849443_128849463dup , CM000669.2:g.128849443_128849463dup	GRCh38
NC_000007.13:g.128489497_128489517dup , CM000669.1:g.128489497_128489517dup	GRCh37
NC_000007.12:g.128276733_128276753dup	NCBI36
NG_011807.1:g.24015_24035dup , LRG_870:g.24015_24035dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000325888.13:c.5064_5084dup MANE Select	ENSP00000327145.8:p.Val1695_Glu1696insGlu...
ENST00000325888.12:c.5064_5084dup	ENSP00000327145.8:p.Val1695_Glu1696insGlu...
ENST00000346177.6:c.5064_5084dup	ENSP00000344002.6:p.Val1695_Glu1696insGlu...
NM_001127487.1:c.5064_5084dup	NP_001120959.1:p.Val1695_Glu1696insGluLeu...
NM_001458.4:c.5064_5084dup , LRG_870t1:c.5064_5084dup	NP_001449.3:p.Val1695_Glu1696insGluLeuAsp...
NM_001127487.2:c.5064_5084dup	NP_001120959.1:p.Val1695_Glu1696insGluLeu...
NM_001458.5:c.5064_5084dup MANE Select	NP_001449.3:p.Val1695_Glu1696insGluLeuAsp...