Canonical Allele Identifier: CA2175497402

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428047T= , CM000677.2:g.48428047T=	GRCh38
NC_000015.9:g.48720244T= , CM000677.1:g.48720244T=	GRCh37
NC_000015.8:g.46507536T=	NCBI36
NG_008805.2:g.222742A= , LRG_778:g.222742A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6998-104A=	ENSP00000453958.2:n.6998-104A=
ENST00000674301.2:c.*449-104A=	ENSP00000501333.2:n.*449-104A=
ENST00000682170.1:n.905A=
ENST00000682767.1:n.233-104A=
ENST00000316623.10:c.6998-274A= MANE Select	ENSP00000325527.5:n.6998-274A=
ENST00000674301.1:c.2102-104A=	ENSP00000501333.1:n.2102-104A=
ENST00000316623.9:c.6998-274A=	ENSP00000325527.5:n.6998-274A=
ENST00000559133.5:c.2305-104A=
ENST00000560720.1:n.583A=
NM_000138.4:c.6998-274A= , LRG_778t1:c.6998-274A=	NP_000129.3:n.6998-274A=
NM_000138.5:c.6998-274A= MANE Select	NP_000129.3:n.6998-274A=