Canonical Allele Identifier: CA2175485949

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410724A= , CM000677.2:g.48410724A=	GRCh38
NC_000015.9:g.48702921A= , CM000677.1:g.48702921A=	GRCh37
NC_000015.8:g.46490213A=	NCBI36
NG_008805.2:g.240065T= , LRG_778:g.240065T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1690T=	ENSP00000453958.2:n.*1690T=
ENST00000682158.1:n.2263T=
ENST00000682170.1:n.3063T=
ENST00000682767.1:n.2179T=
ENST00000316623.10:c.*266T= MANE Select	ENSP00000325527.5:n.*266T=
ENST00000316623.9:c.*266T=	ENSP00000325527.5:n.*266T=
ENST00000559133.5:c.4251T=
NM_000138.4:c.*266T= , LRG_778t1:c.*266T=	NP_000129.3:n.*266T=
NM_000138.5:c.*266T= MANE Select	NP_000129.3:n.*266T=