Canonical Allele Identifier: CA2175539854

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48538104G= , CM000677.2:g.48538104G=	GRCh38
NC_000015.9:g.48830301G= , CM000677.1:g.48830301G=	GRCh37
NC_000015.8:g.46617593G=	NCBI36
NG_008805.2:g.112685C= , LRG_778:g.112685C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.539-296C=	ENSP00000453958.2:n.539-296C=
ENST00000674301.2:c.539-296C=	ENSP00000501333.2:n.539-296C=
ENST00000316623.10:c.539-296C= MANE Select	ENSP00000325527.5:n.539-296C=
ENST00000316623.9:c.539-296C=	ENSP00000325527.5:n.539-296C=
ENST00000537463.6:c.539-296C=	ENSP00000440294.2:n.539-296C=
NM_000138.4:c.539-296C= , LRG_778t1:c.539-296C=	NP_000129.3:n.539-296C=
NM_000138.5:c.539-296C= MANE Select	NP_000129.3:n.539-296C=