Canonical Allele Identifier: CA2175524090

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48492509G= , CM000677.2:g.48492509G=	GRCh38
NC_000015.9:g.48784706G= , CM000677.1:g.48784706G=	GRCh37
NC_000015.8:g.46571998G=	NCBI36
NG_008805.2:g.158280C= , LRG_778:g.158280C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2806C=	ENSP00000453958.2:p.Gln936=
ENST00000674301.2:c.2806C=	ENSP00000501333.2:p.Gln936=
ENST00000684448.1:n.1480C=
ENST00000316623.10:c.2806C= MANE Select	ENSP00000325527.5:p.Gln936=
ENST00000316623.9:c.2806C=	ENSP00000325527.5:p.Gln936=
ENST00000537463.6:c.637-17859C=	ENSP00000440294.2:n.637-17859C=
NM_000138.4:c.2806C= , LRG_778t1:c.2806C=	NP_000129.3:p.Gln936=
NM_000138.5:c.2806C= MANE Select	NP_000129.3:p.Gln936=