Canonical Allele Identifier: CA2175485900

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410673C= , CM000677.2:g.48410673C=	GRCh38
NC_000015.9:g.48702870C= , CM000677.1:g.48702870C=	GRCh37
NC_000015.8:g.46490162C=	NCBI36
NG_008805.2:g.240116G= , LRG_778:g.240116G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1741G=	ENSP00000453958.2:n.*1741G=
ENST00000682158.1:n.2314G=
ENST00000682170.1:n.3114G=
ENST00000682767.1:n.2230G=
ENST00000316623.10:c.*317G= MANE Select	ENSP00000325527.5:n.*317G=
ENST00000316623.9:c.*317G=	ENSP00000325527.5:n.*317G=
ENST00000559133.5:c.4302G=
NM_000138.4:c.*317G= , LRG_778t1:c.*317G=	NP_000129.3:n.*317G=
NM_000138.5:c.*317G= MANE Select	NP_000129.3:n.*317G=