Canonical Allele Identifier: CA2628331744

Gene: FBN1

Linked Data

• gnomAD v4: 15-48492333-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48492333A>G , CM000677.2:g.48492333A>G	GRCh38
NC_000015.9:g.48784530A>G , CM000677.1:g.48784530A>G	GRCh37
NC_000015.8:g.46571822A>G	NCBI36
NG_008805.2:g.158456T>C , LRG_778:g.158456T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2854+128T>C	ENSP00000453958.2:n.2854+128T>C
ENST00000674301.2:c.2854+128T>C	ENSP00000501333.2:n.2854+128T>C
ENST00000684448.1:n.1528+128T>C
ENST00000316623.10:c.2854+128T>C MANE Select	ENSP00000325527.5:n.2854+128T>C
ENST00000316623.9:c.2854+128T>C	ENSP00000325527.5:n.2854+128T>C
ENST00000537463.6:c.637-17683T>C	ENSP00000440294.2:n.637-17683T>C
NM_000138.4:c.2854+128T>C , LRG_778t1:c.2854+128T>C	NP_000129.3:n.2854+128T>C
NM_000138.5:c.2854+128T>C MANE Select	NP_000129.3:n.2854+128T>C