Canonical Allele Identifier: CA2628334230
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48472461-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48472461A>T , CM000677.2:g.48472461A>T GRCh38
NC_000015.9:g.48764658A>T , CM000677.1:g.48764658A>T GRCh37
NC_000015.8:g.46551950A>T NCBI36
NG_008805.2:g.178328T>A , LRG_778:g.178328T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4336+90T>A ENSP00000453958.2:n.4336+90T>A
ENST00000674301.2:c.4336+90T>A ENSP00000501333.2:n.4336+90T>A
ENST00000683268.1:n.303+90T>A
ENST00000684448.1:n.3010+90T>A
ENST00000316623.10:c.4336+90T>A MANE Select ENSP00000325527.5:n.4336+90T>A
ENST00000316623.9:c.4336+90T>A ENSP00000325527.5:n.4336+90T>A
ENST00000537463.6:c.*99+90T>A ENSP00000440294.2:n.*99+90T>A
NM_000138.4:c.4336+90T>A , LRG_778t1:c.4336+90T>A NP_000129.3:n.4336+90T>A
NM_000138.5:c.4336+90T>A MANE Select NP_000129.3:n.4336+90T>A
Search 100 bp 5'
Search 100 bp 3'