Canonical Allele Identifier: CA392318695
Gene: FBN1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

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