Canonical Allele Identifier: CA16614619

Gene: FBN1

Linked Data

• ClinVar Variation Id: 406357
• ClinVar RCV Id: RCV000459677
• dbSNP Id: rs1060501084
• MyVariant Identifiers: chr15:g.48703332G>T (hg19) ; chr15:g.48411135G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411135G>T , CM000677.2:g.48411135G>T	GRCh38
NC_000015.9:g.48703332G>T , CM000677.1:g.48703332G>T	GRCh37
NC_000015.8:g.46490624G>T	NCBI36
NG_008805.2:g.239654C>A , LRG_778:g.239654C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1279C>A	ENSP00000453958.2:n.*1279C>A
ENST00000674301.2:c.*1984C>A	ENSP00000501333.2:n.*1984C>A
ENST00000682158.1:n.1852C>A
ENST00000682170.1:n.2652C>A
ENST00000682767.1:n.1768C>A
ENST00000316623.10:c.8471C>A MANE Select	ENSP00000325527.5:p.Ala2824Asp
ENST00000674301.1:c.3637C>A	ENSP00000501333.1:n.3637C>A
ENST00000316623.9:c.8471C>A	ENSP00000325527.5:p.Ala2824Asp
ENST00000559133.5:c.3840C>A
NM_000138.4:c.8471C>A , LRG_778t1:c.8471C>A	NP_000129.3:p.Ala2824Asp
NM_000138.5:c.8471C>A MANE Select	NP_000129.3:p.Ala2824Asp