Canonical Allele Identifier: CA2628329033

Gene: FBN1

Linked Data

• gnomAD v4: 15-48420643-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48420643G>T , CM000677.2:g.48420643G>T	GRCh38
NC_000015.9:g.48712840G>T , CM000677.1:g.48712840G>T	GRCh37
NC_000015.8:g.46500132G>T	NCBI36
NG_008805.2:g.230146C>A , LRG_778:g.230146C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*627+44C>A	ENSP00000453958.2:n.*627+44C>A
ENST00000674301.2:c.*1332+44C>A	ENSP00000501333.2:n.*1332+44C>A
ENST00000682170.1:n.2000+44C>A
ENST00000682767.1:n.1116+44C>A
ENST00000316623.10:c.7819+44C>A MANE Select	ENSP00000325527.5:n.7819+44C>A
ENST00000674301.1:c.2985+44C>A	ENSP00000501333.1:n.2985+44C>A
ENST00000316623.9:c.7819+44C>A	ENSP00000325527.5:n.7819+44C>A
ENST00000559133.5:c.3188+44C>A
NM_000138.4:c.7819+44C>A , LRG_778t1:c.7819+44C>A	NP_000129.3:n.7819+44C>A
NM_000138.5:c.7819+44C>A MANE Select	NP_000129.3:n.7819+44C>A