Canonical Allele Identifier: CA2175509426

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48483852T= , CM000677.2:g.48483852T=	GRCh38
NC_000015.9:g.48776049T= , CM000677.1:g.48776049T=	GRCh37
NC_000015.8:g.46563341T=	NCBI36
NG_008805.2:g.166937A= , LRG_778:g.166937A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3804A=	ENSP00000453958.2:p.Gly1268=
ENST00000674301.2:c.3804A=	ENSP00000501333.2:p.Gly1268=
ENST00000684448.1:n.2478A=
ENST00000316623.10:c.3804A= MANE Select	ENSP00000325527.5:p.Gly1268=
ENST00000316623.9:c.3804A=	ENSP00000325527.5:p.Gly1268=
ENST00000537463.6:c.637-9202A=	ENSP00000440294.2:n.637-9202A=
NM_000138.4:c.3804A= , LRG_778t1:c.3804A=	NP_000129.3:p.Gly1268=
NM_000138.5:c.3804A= MANE Select	NP_000129.3:p.Gly1268=