Canonical Allele Identifier: CA392322461

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1479671
• ClinVar RCV Id: RCV001991005
• dbSNP Id: rs2141214507
• gnomAD v4: 15-48415535-C-T
• MyVariant Identifiers: chr15:g.48707732C>T (hg19) ; chr15:g.48415535C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415535C>T , CM000677.2:g.48415535C>T	GRCh38
NC_000015.9:g.48707732C>T , CM000677.1:g.48707732C>T	GRCh37
NC_000015.8:g.46495024C>T	NCBI36
NG_008805.2:g.235254G>A , LRG_778:g.235254G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*859+1G>A	ENSP00000453958.2:n.*859+1G>A
ENST00000674301.2:c.*1564+1G>A	ENSP00000501333.2:n.*1564+1G>A
ENST00000682158.1:n.1432+1G>A
ENST00000682170.1:n.2232+1G>A
ENST00000682767.1:n.1348+1G>A
ENST00000316623.10:c.8051+1G>A MANE Select	ENSP00000325527.5:n.8051+1G>A
ENST00000674301.1:c.3217+1G>A	ENSP00000501333.1:n.3217+1G>A
ENST00000316623.9:c.8051+1G>A	ENSP00000325527.5:n.8051+1G>A
ENST00000559133.5:c.3420+1G>A
ENST00000561429.1:n.306+1G>A
NM_000138.4:c.8051+1G>A , LRG_778t1:c.8051+1G>A	NP_000129.3:n.8051+1G>A
NM_000138.5:c.8051+1G>A MANE Select	NP_000129.3:n.8051+1G>A