Canonical Allele Identifier: CA2175486335
Gene: FBN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48411135G= , CM000677.2:g.48411135G= GRCh38
NC_000015.9:g.48703332G= , CM000677.1:g.48703332G= GRCh37
NC_000015.8:g.46490624G= NCBI36
NG_008805.2:g.239654C= , LRG_778:g.239654C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1279C= ENSP00000453958.2:n.*1279C=
ENST00000674301.2:c.*1984C= ENSP00000501333.2:n.*1984C=
ENST00000682158.1:n.1852C=
ENST00000682170.1:n.2652C=
ENST00000682767.1:n.1768C=
ENST00000316623.10:c.8471C= MANE Select ENSP00000325527.5:p.Ala2824=
ENST00000674301.1:c.3637C= ENSP00000501333.1:n.3637C=
ENST00000316623.9:c.8471C= ENSP00000325527.5:p.Ala2824=
ENST00000559133.5:c.3840C=
NM_000138.4:c.8471C= , LRG_778t1:c.8471C= NP_000129.3:p.Ala2824=
NM_000138.5:c.8471C= MANE Select NP_000129.3:p.Ala2824=