Canonical Allele Identifier: CA2175485997

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410807G= , CM000677.2:g.48410807G=	GRCh38
NC_000015.9:g.48703004G= , CM000677.1:g.48703004G=	GRCh37
NC_000015.8:g.46490296G=	NCBI36
NG_008805.2:g.239982C= , LRG_778:g.239982C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1607C=	ENSP00000453958.2:n.*1607C=
ENST00000682158.1:n.2180C=
ENST00000682170.1:n.2980C=
ENST00000682767.1:n.2096C=
ENST00000316623.10:c.*183C= MANE Select	ENSP00000325527.5:n.*183C=
ENST00000316623.9:c.*183C=	ENSP00000325527.5:n.*183C=
ENST00000559133.5:c.4168C=
NM_000138.4:c.*183C= , LRG_778t1:c.*183C=	NP_000129.3:n.*183C=
NM_000138.5:c.*183C= MANE Select	NP_000129.3:n.*183C=