Canonical Allele Identifier: CA2499222954

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1076397
• ClinVar RCV Id: RCV001390303
• dbSNP Id: rs2141209783

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411152dup , CM000677.2:g.48411152dup	GRCh38
NC_000015.9:g.48703349dup , CM000677.1:g.48703349dup	GRCh37
NC_000015.8:g.46490641dup	NCBI36
NG_008805.2:g.239639dup , LRG_778:g.239639dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1264dup	ENSP00000453958.2:n.*1264dup
ENST00000674301.2:c.*1969dup	ENSP00000501333.2:n.*1969dup
ENST00000682158.1:n.1837dup
ENST00000682170.1:n.2637dup
ENST00000682767.1:n.1753dup
ENST00000316623.10:c.8456dup MANE Select	ENSP00000325527.5:p.Lys2820GlufsTer14
ENST00000674301.1:c.3622dup	ENSP00000501333.1:n.3622dup
ENST00000316623.9:c.8456dup	ENSP00000325527.5:p.Lys2820GlufsTer14
ENST00000559133.5:c.3825dup
NM_000138.4:c.8456dup , LRG_778t1:c.8456dup	NP_000129.3:p.Lys2820GlufsTer14
NM_000138.5:c.8456dup MANE Select	NP_000129.3:p.Lys2820GlufsTer14