Canonical Allele Identifier: CA2628324991

Gene: FBN1

Linked Data

• gnomAD v4: 15-48410886-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410886G>A , CM000677.2:g.48410886G>A	GRCh38
NC_000015.9:g.48703083G>A , CM000677.1:g.48703083G>A	GRCh37
NC_000015.8:g.46490375G>A	NCBI36
NG_008805.2:g.239903C>T , LRG_778:g.239903C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1528C>T	ENSP00000453958.2:n.*1528C>T
ENST00000682158.1:n.2101C>T
ENST00000682170.1:n.2901C>T
ENST00000682767.1:n.2017C>T
ENST00000316623.10:c.*104C>T MANE Select	ENSP00000325527.5:n.*104C>T
ENST00000316623.9:c.*104C>T	ENSP00000325527.5:n.*104C>T
ENST00000559133.5:c.4089C>T
NM_000138.4:c.*104C>T , LRG_778t1:c.*104C>T	NP_000129.3:n.*104C>T
NM_000138.5:c.*104C>T MANE Select	NP_000129.3:n.*104C>T