Canonical Allele Identifier: CA392318694
Gene: FBN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48411086T>A , CM000677.2:g.48411086T>A GRCh38
NC_000015.9:g.48703283T>A , CM000677.1:g.48703283T>A GRCh37
NC_000015.8:g.46490575T>A NCBI36
NG_008805.2:g.239703A>T , LRG_778:g.239703A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1328A>T ENSP00000453958.2:n.*1328A>T
ENST00000682158.1:n.1901A>T
ENST00000682170.1:n.2701A>T
ENST00000682767.1:n.1817A>T
ENST00000316623.10:c.8520A>T MANE Select ENSP00000325527.5:p.Lys2840Asn
ENST00000316623.9:c.8520A>T ENSP00000325527.5:p.Lys2840Asn
ENST00000559133.5:c.3889A>T
NM_000138.4:c.8520A>T , LRG_778t1:c.8520A>T NP_000129.3:p.Lys2840Asn
NM_000138.5:c.8520A>T MANE Select NP_000129.3:p.Lys2840Asn