Canonical Allele Identifier: CA017025

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200105
• ClinVar RCV Id: RCV000181592 ; RCV000631981
• dbSNP Id: rs794728265
• MyVariant Identifiers: chr15:g.48719843A>T (hg19) ; chr15:g.48427646A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48427646A>T , CM000677.2:g.48427646A>T	GRCh38
NC_000015.9:g.48719843A>T , CM000677.1:g.48719843A>T	GRCh37
NC_000015.8:g.46507135A>T	NCBI36
NG_008805.2:g.223143T>A , LRG_778:g.223143T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.7187T>A	ENSP00000453958.2:p.Val2396Glu
ENST00000674301.2:c.*638T>A	ENSP00000501333.2:n.*638T>A
ENST00000682170.1:n.1306T>A
ENST00000682767.1:n.422T>A
ENST00000316623.10:c.7125T>A MANE Select	ENSP00000325527.5:p.Cys2375Ter
ENST00000674301.1:c.2291T>A	ENSP00000501333.1:n.2291T>A
ENST00000316623.9:c.7125T>A	ENSP00000325527.5:p.Cys2375Ter
ENST00000559133.5:c.2494T>A
NM_000138.4:c.7125T>A , LRG_778t1:c.7125T>A	NP_000129.3:p.Cys2375Ter
NM_000138.5:c.7125T>A MANE Select	NP_000129.3:p.Cys2375Ter