Canonical Allele Identifier: CA10642089

Gene: FBN1

Linked Data

• ClinVar Variation Id: 316353
• ClinVar RCV Id: RCV000273656 ; RCV000279386 ; RCV000280409 ; RCV000333425 ; RCV000334551 ; RCV000375108 ; RCV000386834 ; RCV000387856
• dbSNP Id: rs886051240
• gnomAD v4: 15-48410584-C-A
• MyVariant Identifiers: chr15:g.48702781C>A (hg19) ; chr15:g.48410584C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410584C>A , CM000677.2:g.48410584C>A	GRCh38
NC_000015.9:g.48702781C>A , CM000677.1:g.48702781C>A	GRCh37
NC_000015.8:g.46490073C>A	NCBI36
NG_008805.2:g.240205G>T , LRG_778:g.240205G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*1830G>T	ENSP00000453958.2:n.*1830G>T
ENST00000682158.1:n.2403G>T
ENST00000682170.1:n.3203G>T
ENST00000682767.1:n.2319G>T
ENST00000316623.10:c.*406G>T MANE Select	ENSP00000325527.5:n.*406G>T
ENST00000316623.9:c.*406G>T	ENSP00000325527.5:n.*406G>T
ENST00000559133.5:c.4391G>T
NM_000138.4:c.*406G>T , LRG_778t1:c.*406G>T	NP_000129.3:n.*406G>T
NM_000138.5:c.*406G>T MANE Select	NP_000129.3:n.*406G>T