Canonical Allele Identifier: CA2175498409

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428455C= , CM000677.2:g.48428455C=	GRCh38
NC_000015.9:g.48720652C= , CM000677.1:g.48720652C=	GRCh37
NC_000015.8:g.46507944C=	NCBI36
NG_008805.2:g.222334G= , LRG_778:g.222334G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6888G=	ENSP00000453958.2:p.Gln2296=
ENST00000674301.2:c.*339G=	ENSP00000501333.2:n.*339G=
ENST00000682170.1:n.497G=
ENST00000682767.1:n.123G=
ENST00000316623.10:c.6888G= MANE Select	ENSP00000325527.5:p.Gln2296=
ENST00000674301.1:c.1992G=	ENSP00000501333.1:n.1992G=
ENST00000316623.9:c.6888G=	ENSP00000325527.5:p.Gln2296=
ENST00000559133.5:c.2195G=
ENST00000560720.1:n.175G=
NM_000138.4:c.6888G= , LRG_778t1:c.6888G=	NP_000129.3:p.Gln2296=
NM_000138.5:c.6888G= MANE Select	NP_000129.3:p.Gln2296=