Canonical Allele Identifier: CA2175518142

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48467815C= , CM000677.2:g.48467815C=	GRCh38
NC_000015.9:g.48760012C= , CM000677.1:g.48760012C=	GRCh37
NC_000015.8:g.46547304C=	NCBI36
NG_008805.2:g.182974G= , LRG_778:g.182974G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4747+123G=	ENSP00000453958.2:n.4747+123G=
ENST00000674301.2:c.4747+123G=	ENSP00000501333.2:n.4747+123G=
ENST00000684448.1:n.3421+123G=
ENST00000316623.10:c.4747+123G= MANE Select	ENSP00000325527.5:n.4747+123G=
ENST00000316623.9:c.4747+123G=	ENSP00000325527.5:n.4747+123G=
ENST00000537463.6:c.*510+123G=	ENSP00000440294.2:n.*510+123G=
ENST00000559133.5:c.54+123G=
NM_000138.4:c.4747+123G= , LRG_778t1:c.4747+123G=	NP_000129.3:n.4747+123G=
NM_000138.5:c.4747+123G= MANE Select	NP_000129.3:n.4747+123G=