Canonical Allele Identifier: CA2628324985
Gene: FBN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48410879T>A , CM000677.2:g.48410879T>A GRCh38
NC_000015.9:g.48703076T>A , CM000677.1:g.48703076T>A GRCh37
NC_000015.8:g.46490368T>A NCBI36
NG_008805.2:g.239910A>T , LRG_778:g.239910A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1535A>T ENSP00000453958.2:n.*1535A>T
ENST00000682158.1:n.2108A>T
ENST00000682170.1:n.2908A>T
ENST00000682767.1:n.2024A>T
ENST00000316623.10:c.*111A>T MANE Select ENSP00000325527.5:n.*111A>T
ENST00000316623.9:c.*111A>T ENSP00000325527.5:n.*111A>T
ENST00000559133.5:c.4096A>T
NM_000138.4:c.*111A>T , LRG_778t1:c.*111A>T NP_000129.3:n.*111A>T
NM_000138.5:c.*111A>T MANE Select NP_000129.3:n.*111A>T