Canonical Allele Identifier: CA2175498432

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428457G= , CM000677.2:g.48428457G=	GRCh38
NC_000015.9:g.48720654G= , CM000677.1:g.48720654G=	GRCh37
NC_000015.8:g.46507946G=	NCBI36
NG_008805.2:g.222332C= , LRG_778:g.222332C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6886C=	ENSP00000453958.2:p.Gln2296=
ENST00000674301.2:c.*337C=	ENSP00000501333.2:n.*337C=
ENST00000682170.1:n.495C=
ENST00000682767.1:n.121C=
ENST00000316623.10:c.6886C= MANE Select	ENSP00000325527.5:p.Gln2296=
ENST00000674301.1:c.1990C=	ENSP00000501333.1:n.1990C=
ENST00000316623.9:c.6886C=	ENSP00000325527.5:p.Gln2296=
ENST00000559133.5:c.2193C=
ENST00000560720.1:n.173C=
NM_000138.4:c.6886C= , LRG_778t1:c.6886C=	NP_000129.3:p.Gln2296=
NM_000138.5:c.6886C= MANE Select	NP_000129.3:p.Gln2296=