Canonical Allele Identifier: CA2628329586

Gene: FBN1

Linked Data

• gnomAD v4: 15-48421823-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421823C>A , CM000677.2:g.48421823C>A	GRCh38
NC_000015.9:g.48714020C>A , CM000677.1:g.48714020C>A	GRCh37
NC_000015.8:g.46501312C>A	NCBI36
NG_008805.2:g.228966G>T , LRG_778:g.228966G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*378+129G>T	ENSP00000453958.2:n.*378+129G>T
ENST00000674301.2:c.*1083+129G>T	ENSP00000501333.2:n.*1083+129G>T
ENST00000682170.1:n.1751+129G>T
ENST00000682767.1:n.867+129G>T
ENST00000316623.10:c.7570+129G>T MANE Select	ENSP00000325527.5:n.7570+129G>T
ENST00000674301.1:c.2736+129G>T	ENSP00000501333.1:n.2736+129G>T
ENST00000316623.9:c.7570+129G>T	ENSP00000325527.5:n.7570+129G>T
ENST00000559133.5:c.2939+129G>T
NM_000138.4:c.7570+129G>T , LRG_778t1:c.7570+129G>T	NP_000129.3:n.7570+129G>T
NM_000138.5:c.7570+129G>T MANE Select	NP_000129.3:n.7570+129G>T