Canonical Allele Identifier: CA618009159

Gene: FBN1

Linked Data

• dbSNP Id: rs1194844015
• gnomAD v2: 15-48703162-A-T
• gnomAD v4: 15-48410965-A-T
• MyVariant Identifiers: chr15:g.48703162A>T (hg19) ; chr15:g.48410965A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410965A>T , CM000677.2:g.48410965A>T	GRCh38
NC_000015.9:g.48703162A>T , CM000677.1:g.48703162A>T	GRCh37
NC_000015.8:g.46490454A>T	NCBI36
NG_008805.2:g.239824T>A , LRG_778:g.239824T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*1449T>A	ENSP00000453958.2:n.*1449T>A
ENST00000682158.1:n.2022T>A
ENST00000682170.1:n.2822T>A
ENST00000682767.1:n.1938T>A
ENST00000316623.10:c.*25T>A MANE Select	ENSP00000325527.5:n.*25T>A
ENST00000316623.9:c.*25T>A	ENSP00000325527.5:n.*25T>A
ENST00000559133.5:c.4010T>A
NM_000138.4:c.*25T>A , LRG_778t1:c.*25T>A	NP_000129.3:n.*25T>A
NM_000138.5:c.*25T>A MANE Select	NP_000129.3:n.*25T>A