Canonical Allele Identifier: CA2175484897

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48409538G= , CM000677.2:g.48409538G=	GRCh38
NC_000015.9:g.48701735G= , CM000677.1:g.48701735G=	GRCh37
NC_000015.8:g.46489027G=	NCBI36
NG_008805.2:g.241251C= , LRG_778:g.241251C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000682170.1:n.4249C=
ENST00000682767.1:n.3365C=
ENST00000316623.10:c.*1452C= MANE Select	ENSP00000325527.5:n.*1452C=
ENST00000316623.9:c.*1452C=	ENSP00000325527.5:n.*1452C=
NM_000138.4:c.*1452C= , LRG_778t1:c.*1452C=	NP_000129.3:n.*1452C=
NM_000138.5:c.*1452C= MANE Select	NP_000129.3:n.*1452C=