Canonical Allele Identifier: CA2175486444

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411184G= , CM000677.2:g.48411184G=	GRCh38
NC_000015.9:g.48703381G= , CM000677.1:g.48703381G=	GRCh37
NC_000015.8:g.46490673G=	NCBI36
NG_008805.2:g.239605C= , LRG_778:g.239605C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1230C=	ENSP00000453958.2:n.*1230C=
ENST00000674301.2:c.*1935C=	ENSP00000501333.2:n.*1935C=
ENST00000682158.1:n.1803C=
ENST00000682170.1:n.2603C=
ENST00000682767.1:n.1719C=
ENST00000316623.10:c.8422C= MANE Select	ENSP00000325527.5:p.Gln2808=
ENST00000674301.1:c.3588C=	ENSP00000501333.1:n.3588C=
ENST00000316623.9:c.8422C=	ENSP00000325527.5:p.Gln2808=
ENST00000559133.5:c.3791C=
NM_000138.4:c.8422C= , LRG_778t1:c.8422C=	NP_000129.3:p.Gln2808=
NM_000138.5:c.8422C= MANE Select	NP_000129.3:p.Gln2808=