Canonical Allele Identifier: CA490118954

Gene: FBN1

Linked Data

• dbSNP Id: rs1285157391
• gnomAD v3: 15-48411227-G-A
• gnomAD v4: 15-48411227-G-A
• MyVariant Identifiers: chr15:g.48703424G>A (hg19) ; chr15:g.48411227G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411227G>A , CM000677.2:g.48411227G>A	GRCh38
NC_000015.9:g.48703424G>A , CM000677.1:g.48703424G>A	GRCh37
NC_000015.8:g.46490716G>A	NCBI36
NG_008805.2:g.239562C>T , LRG_778:g.239562C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1187C>T	ENSP00000453958.2:n.*1187C>T
ENST00000674301.2:c.*1892C>T	ENSP00000501333.2:n.*1892C>T
ENST00000682158.1:n.1760C>T
ENST00000682170.1:n.2560C>T
ENST00000682767.1:n.1676C>T
ENST00000316623.10:c.8379C>T MANE Select	ENSP00000325527.5:p.Tyr2793=
ENST00000674301.1:c.3545C>T	ENSP00000501333.1:n.3545C>T
ENST00000316623.9:c.8379C>T	ENSP00000325527.5:p.Tyr2793=
ENST00000559133.5:c.3748C>T
ENST00000561429.1:n.634C>T
NM_000138.4:c.8379C>T , LRG_778t1:c.8379C>T	NP_000129.3:p.Tyr2793=
NM_000138.5:c.8379C>T MANE Select	NP_000129.3:p.Tyr2793=