Canonical Allele Identifier: CA2628329584

Gene: FBN1

Linked Data

• gnomAD v4: 15-48421822-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421822G>A , CM000677.2:g.48421822G>A	GRCh38
NC_000015.9:g.48714019G>A , CM000677.1:g.48714019G>A	GRCh37
NC_000015.8:g.46501311G>A	NCBI36
NG_008805.2:g.228967C>T , LRG_778:g.228967C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*378+130C>T	ENSP00000453958.2:n.*378+130C>T
ENST00000674301.2:c.*1083+130C>T	ENSP00000501333.2:n.*1083+130C>T
ENST00000682170.1:n.1751+130C>T
ENST00000682767.1:n.867+130C>T
ENST00000316623.10:c.7570+130C>T MANE Select	ENSP00000325527.5:n.7570+130C>T
ENST00000674301.1:c.2736+130C>T	ENSP00000501333.1:n.2736+130C>T
ENST00000316623.9:c.7570+130C>T	ENSP00000325527.5:n.7570+130C>T
ENST00000559133.5:c.2939+130C>T
NM_000138.4:c.7570+130C>T , LRG_778t1:c.7570+130C>T	NP_000129.3:n.7570+130C>T
NM_000138.5:c.7570+130C>T MANE Select	NP_000129.3:n.7570+130C>T