Canonical Allele Identifier: CA392329205

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549123
• ClinVar RCV Id: RCV000663592
• dbSNP Id: rs1555398803
• MyVariant Identifiers: chr15:g.48782142A>T (hg19) ; chr15:g.48489945A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48489945A>T , CM000677.2:g.48489945A>T	GRCh38
NC_000015.9:g.48782142A>T , CM000677.1:g.48782142A>T	GRCh37
NC_000015.8:g.46569434A>T	NCBI36
NG_008805.2:g.160844T>A , LRG_778:g.160844T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.2988T>A	ENSP00000453958.2:p.Cys996Ter
ENST00000674301.2:c.2988T>A	ENSP00000501333.2:p.Cys996Ter
ENST00000684448.1:n.1662T>A
ENST00000316623.10:c.2988T>A MANE Select	ENSP00000325527.5:p.Cys996Ter
ENST00000316623.9:c.2988T>A	ENSP00000325527.5:p.Cys996Ter
ENST00000537463.6:c.637-15295T>A	ENSP00000440294.2:n.637-15295T>A
NM_000138.4:c.2988T>A , LRG_778t1:c.2988T>A	NP_000129.3:p.Cys996Ter
NM_000138.5:c.2988T>A MANE Select	NP_000129.3:p.Cys996Ter