Canonical Allele Identifier: CA015878

Gene: FBN1

Linked Data

• ClinVar Variation Id: 36089
• ClinVar RCV Id: RCV000029751 ; RCV003764641
• dbSNP Id: rs193922213
• gnomAD v4: 15-48452550-G-A
• MyVariant Identifiers: chr15:g.48744747G>A (hg19) ; chr15:g.48452550G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48452550G>A , CM000677.2:g.48452550G>A	GRCh38
NC_000015.9:g.48744747G>A , CM000677.1:g.48744747G>A	GRCh37
NC_000015.8:g.46532039G>A	NCBI36
NG_008805.2:g.198239C>T , LRG_778:g.198239C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5545+12C>T	ENSP00000453958.2:n.5545+12C>T
ENST00000674301.2:c.5545+12C>T	ENSP00000501333.2:n.5545+12C>T
ENST00000684448.1:n.4219+12C>T
ENST00000316623.10:c.5545+12C>T MANE Select	ENSP00000325527.5:n.5545+12C>T
ENST00000674301.1:c.544+12C>T	ENSP00000501333.1:n.544+12C>T
ENST00000316623.9:c.5545+12C>T	ENSP00000325527.5:n.5545+12C>T
ENST00000537463.6:c.*1308+12C>T	ENSP00000440294.2:n.*1308+12C>T
ENST00000559133.5:c.852+12C>T
NM_000138.4:c.5545+12C>T , LRG_778t1:c.5545+12C>T	NP_000129.3:n.5545+12C>T
NM_000138.5:c.5545+12C>T MANE Select	NP_000129.3:n.5545+12C>T