Canonical Allele Identifier: CA392319458

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1518035
• ClinVar RCV Id: RCV002021456
• dbSNP Id: rs2141209965
• MyVariant Identifiers: chr15:g.48703455G>T (hg19) ; chr15:g.48411258G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411258G>T , CM000677.2:g.48411258G>T	GRCh38
NC_000015.9:g.48703455G>T , CM000677.1:g.48703455G>T	GRCh37
NC_000015.8:g.46490747G>T	NCBI36
NG_008805.2:g.239531C>A , LRG_778:g.239531C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1156C>A	ENSP00000453958.2:n.*1156C>A
ENST00000674301.2:c.*1861C>A	ENSP00000501333.2:n.*1861C>A
ENST00000682158.1:n.1729C>A
ENST00000682170.1:n.2529C>A
ENST00000682767.1:n.1645C>A
ENST00000316623.10:c.8348C>A MANE Select	ENSP00000325527.5:p.Ala2783Asp
ENST00000674301.1:c.3514C>A	ENSP00000501333.1:n.3514C>A
ENST00000316623.9:c.8348C>A	ENSP00000325527.5:p.Ala2783Asp
ENST00000559133.5:c.3717C>A
ENST00000561429.1:n.603C>A
NM_000138.4:c.8348C>A , LRG_778t1:c.8348C>A	NP_000129.3:p.Ala2783Asp
NM_000138.5:c.8348C>A MANE Select	NP_000129.3:p.Ala2783Asp