Canonical Allele Identifier: CA392328478

Gene: FBN1

Linked Data

• ClinVar Variation Id: 519742
• ClinVar RCV Id: RCV001779026 ; RCV002314337
• dbSNP Id: rs1555394433
• MyVariant Identifiers: chr15:g.48717935C>T (hg19) ; chr15:g.48425738C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425738C>T , CM000677.2:g.48425738C>T	GRCh38
NC_000015.9:g.48717935C>T , CM000677.1:g.48717935C>T	GRCh37
NC_000015.8:g.46505227C>T	NCBI36
NG_008805.2:g.225051G>A , LRG_778:g.225051G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*138+1G>A	ENSP00000453958.2:n.*138+1G>A
ENST00000674301.2:c.*843+1G>A	ENSP00000501333.2:n.*843+1G>A
ENST00000682170.1:n.1511+1G>A
ENST00000682767.1:n.627+1G>A
ENST00000316623.10:c.7330+1G>A MANE Select	ENSP00000325527.5:n.7330+1G>A
ENST00000674301.1:c.2496+1G>A	ENSP00000501333.1:n.2496+1G>A
ENST00000316623.9:c.7330+1G>A	ENSP00000325527.5:n.7330+1G>A
ENST00000559133.5:c.2699+1G>A
NM_000138.4:c.7330+1G>A , LRG_778t1:c.7330+1G>A	NP_000129.3:n.7330+1G>A
NM_000138.5:c.7330+1G>A MANE Select	NP_000129.3:n.7330+1G>A