Canonical Allele Identifier: CA2175526441

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48503809C= , CM000677.2:g.48503809C=	GRCh38
NC_000015.9:g.48796006C= , CM000677.1:g.48796006C=	GRCh37
NC_000015.8:g.46583298C=	NCBI36
NG_008805.2:g.146980G= , LRG_778:g.146980G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2091G=	ENSP00000453958.2:p.Gln697=
ENST00000674301.2:c.2091G=	ENSP00000501333.2:p.Gln697=
ENST00000684448.1:n.765G=
ENST00000316623.10:c.2091G= MANE Select	ENSP00000325527.5:p.Gln697=
ENST00000316623.9:c.2091G=	ENSP00000325527.5:p.Gln697=
ENST00000537463.6:c.637-29159G=	ENSP00000440294.2:n.637-29159G=
NM_000138.4:c.2091G= , LRG_778t1:c.2091G=	NP_000129.3:p.Gln697=
NM_000138.5:c.2091G= MANE Select	NP_000129.3:p.Gln697=