Canonical Allele Identifier: CA2175485947

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410722C= , CM000677.2:g.48410722C=	GRCh38
NC_000015.9:g.48702919C= , CM000677.1:g.48702919C=	GRCh37
NC_000015.8:g.46490211C=	NCBI36
NG_008805.2:g.240067G= , LRG_778:g.240067G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*1692G=	ENSP00000453958.2:n.*1692G=
ENST00000682158.1:n.2265G=
ENST00000682170.1:n.3065G=
ENST00000682767.1:n.2181G=
ENST00000316623.10:c.*268G= MANE Select	ENSP00000325527.5:n.*268G=
ENST00000316623.9:c.*268G=	ENSP00000325527.5:n.*268G=
ENST00000559133.5:c.4253G=
NM_000138.4:c.*268G= , LRG_778t1:c.*268G=	NP_000129.3:n.*268G=
NM_000138.5:c.*268G= MANE Select	NP_000129.3:n.*268G=