Canonical Allele Identifier: CA2175484088

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48408546A= , CM000677.2:g.48408546A=	GRCh38
NC_000015.9:g.48700743A= , CM000677.1:g.48700743A=	GRCh37
NC_000015.8:g.46488035A=	NCBI36
NG_008805.2:g.242243T= , LRG_778:g.242243T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000682170.1:n.5241T=
ENST00000682767.1:n.4357T=
ENST00000316623.10:c.*2444T= MANE Select	ENSP00000325527.5:n.*2444T=
ENST00000316623.9:c.*2444T=	ENSP00000325527.5:n.*2444T=
NM_000138.4:c.*2444T= , LRG_778t1:c.*2444T=	NP_000129.3:n.*2444T=
NM_000138.5:c.*2444T= MANE Select	NP_000129.3:n.*2444T=