Canonical Allele Identifier: CA2175485798

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410570C= , CM000677.2:g.48410570C=	GRCh38
NC_000015.9:g.48702767C= , CM000677.1:g.48702767C=	GRCh37
NC_000015.8:g.46490059C=	NCBI36
NG_008805.2:g.240219G= , LRG_778:g.240219G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1844G=	ENSP00000453958.2:n.*1844G=
ENST00000682158.1:n.2417G=
ENST00000682170.1:n.3217G=
ENST00000682767.1:n.2333G=
ENST00000316623.10:c.*420G= MANE Select	ENSP00000325527.5:n.*420G=
ENST00000316623.9:c.*420G=	ENSP00000325527.5:n.*420G=
ENST00000559133.5:c.4405G=
NM_000138.4:c.*420G= , LRG_778t1:c.*420G=	NP_000129.3:n.*420G=
NM_000138.5:c.*420G= MANE Select	NP_000129.3:n.*420G=