Canonical Allele Identifier: CA2175503046

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430821C= , CM000677.2:g.48430821C=	GRCh38
NC_000015.9:g.48723018C= , CM000677.1:g.48723018C=	GRCh37
NC_000015.8:g.46510310C=	NCBI36
NG_008805.2:g.219968G= , LRG_778:g.219968G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6740-19G=	ENSP00000453958.2:n.6740-19G=
ENST00000674301.2:c.*191-19G=	ENSP00000501333.2:n.*191-19G=
ENST00000682170.1:n.349-19G=
ENST00000316623.10:c.6740-19G= MANE Select	ENSP00000325527.5:n.6740-19G=
ENST00000674301.1:c.1844-19G=	ENSP00000501333.1:n.1844-19G=
ENST00000316623.9:c.6740-19G=	ENSP00000325527.5:n.6740-19G=
ENST00000537463.6:c.*2503-19G=	ENSP00000440294.2:n.*2503-19G=
ENST00000559133.5:c.2047-19G=
ENST00000560720.1:n.27-19G=
NM_000138.4:c.6740-19G= , LRG_778t1:c.6740-19G=	NP_000129.3:n.6740-19G=
NM_000138.5:c.6740-19G= MANE Select	NP_000129.3:n.6740-19G=