Canonical Allele Identifier: CA2175497526

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428141T= , CM000677.2:g.48428141T=	GRCh38
NC_000015.9:g.48720338T= , CM000677.1:g.48720338T=	GRCh37
NC_000015.8:g.46507630T=	NCBI36
NG_008805.2:g.222648A= , LRG_778:g.222648A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6998-198A=	ENSP00000453958.2:n.6998-198A=
ENST00000674301.2:c.*449-198A=	ENSP00000501333.2:n.*449-198A=
ENST00000682170.1:n.811A=
ENST00000682767.1:n.233-198A=
ENST00000316623.10:c.6997+205A= MANE Select	ENSP00000325527.5:n.6997+205A=
ENST00000674301.1:c.2102-198A=	ENSP00000501333.1:n.2102-198A=
ENST00000316623.9:c.6997+205A=	ENSP00000325527.5:n.6997+205A=
ENST00000559133.5:c.2305-198A=
ENST00000560720.1:n.489A=
NM_000138.4:c.6997+205A= , LRG_778t1:c.6997+205A=	NP_000129.3:n.6997+205A=
NM_000138.5:c.6997+205A= MANE Select	NP_000129.3:n.6997+205A=