Canonical Allele Identifier: CA2628331733

Gene: FBN1

Linked Data

• gnomAD v4: 15-48492327-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48492327G>T , CM000677.2:g.48492327G>T	GRCh38
NC_000015.9:g.48784524G>T , CM000677.1:g.48784524G>T	GRCh37
NC_000015.8:g.46571816G>T	NCBI36
NG_008805.2:g.158462C>A , LRG_778:g.158462C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2854+134C>A	ENSP00000453958.2:n.2854+134C>A
ENST00000674301.2:c.2854+134C>A	ENSP00000501333.2:n.2854+134C>A
ENST00000684448.1:n.1528+134C>A
ENST00000316623.10:c.2854+134C>A MANE Select	ENSP00000325527.5:n.2854+134C>A
ENST00000316623.9:c.2854+134C>A	ENSP00000325527.5:n.2854+134C>A
ENST00000537463.6:c.637-17677C>A	ENSP00000440294.2:n.637-17677C>A
NM_000138.4:c.2854+134C>A , LRG_778t1:c.2854+134C>A	NP_000129.3:n.2854+134C>A
NM_000138.5:c.2854+134C>A MANE Select	NP_000129.3:n.2854+134C>A