Canonical Allele Identifier: CA2175498383

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428445C= , CM000677.2:g.48428445C=	GRCh38
NC_000015.9:g.48720642C= , CM000677.1:g.48720642C=	GRCh37
NC_000015.8:g.46507934C=	NCBI36
NG_008805.2:g.222344G= , LRG_778:g.222344G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6898G=	ENSP00000453958.2:p.Gly2300=
ENST00000674301.2:c.*349G=	ENSP00000501333.2:n.*349G=
ENST00000682170.1:n.507G=
ENST00000682767.1:n.133G=
ENST00000316623.10:c.6898G= MANE Select	ENSP00000325527.5:p.Gly2300=
ENST00000674301.1:c.2002G=	ENSP00000501333.1:n.2002G=
ENST00000316623.9:c.6898G=	ENSP00000325527.5:p.Gly2300=
ENST00000559133.5:c.2205G=
ENST00000560720.1:n.185G=
NM_000138.4:c.6898G= , LRG_778t1:c.6898G=	NP_000129.3:p.Gly2300=
NM_000138.5:c.6898G= MANE Select	NP_000129.3:p.Gly2300=