Canonical Allele Identifier: CA2175509349

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441892C= , CM000677.2:g.48441892C=	GRCh38
NC_000015.9:g.48734089C= , CM000677.1:g.48734089C=	GRCh37
NC_000015.8:g.46521381C=	NCBI36
NG_008805.2:g.208897G= , LRG_778:g.208897G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6038-46G=	ENSP00000453958.2:n.6038-46G=
ENST00000674301.2:c.6038-46G=	ENSP00000501333.2:n.6038-46G=
ENST00000316623.10:c.6038-46G= MANE Select	ENSP00000325527.5:n.6038-46G=
ENST00000674301.1:c.1037-46G=	ENSP00000501333.1:n.1037-46G=
ENST00000316623.9:c.6038-46G=	ENSP00000325527.5:n.6038-46G=
ENST00000537463.6:c.*1801-46G=	ENSP00000440294.2:n.*1801-46G=
ENST00000559133.5:c.1345-46G=
ENST00000560820.1:n.158-46G=
NM_000138.4:c.6038-46G= , LRG_778t1:c.6038-46G=	NP_000129.3:n.6038-46G=
NM_000138.5:c.6038-46G= MANE Select	NP_000129.3:n.6038-46G=