Canonical Allele Identifier: CA2628325025

Gene: FBN1

Linked Data

• gnomAD v4: 15-48410942-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410942C>A , CM000677.2:g.48410942C>A	GRCh38
NC_000015.9:g.48703139C>A , CM000677.1:g.48703139C>A	GRCh37
NC_000015.8:g.46490431C>A	NCBI36
NG_008805.2:g.239847G>T , LRG_778:g.239847G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1472G>T	ENSP00000453958.2:n.*1472G>T
ENST00000682158.1:n.2045G>T
ENST00000682170.1:n.2845G>T
ENST00000682767.1:n.1961G>T
ENST00000316623.10:c.*48G>T MANE Select	ENSP00000325527.5:n.*48G>T
ENST00000316623.9:c.*48G>T	ENSP00000325527.5:n.*48G>T
ENST00000559133.5:c.4033G>T
NM_000138.4:c.*48G>T , LRG_778t1:c.*48G>T	NP_000129.3:n.*48G>T
NM_000138.5:c.*48G>T MANE Select	NP_000129.3:n.*48G>T