Canonical Allele Identifier: CA2175486830

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411374C= , CM000677.2:g.48411374C=	GRCh38
NC_000015.9:g.48703571C= , CM000677.1:g.48703571C=	GRCh37
NC_000015.8:g.46490863C=	NCBI36
NG_008805.2:g.239415G= , LRG_778:g.239415G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1040G=	ENSP00000453958.2:n.*1040G=
ENST00000674301.2:c.*1745G=	ENSP00000501333.2:n.*1745G=
ENST00000682158.1:n.1613G=
ENST00000682170.1:n.2413G=
ENST00000682767.1:n.1529G=
ENST00000316623.10:c.8232G= MANE Select	ENSP00000325527.5:p.Gln2744=
ENST00000674301.1:c.3398G=	ENSP00000501333.1:n.3398G=
ENST00000316623.9:c.8232G=	ENSP00000325527.5:p.Gln2744=
ENST00000559133.5:c.3601G=
ENST00000561429.1:n.487G=
NM_000138.4:c.8232G= , LRG_778t1:c.8232G=	NP_000129.3:p.Gln2744=
NM_000138.5:c.8232G= MANE Select	NP_000129.3:p.Gln2744=