Canonical Allele Identifier: CA392318810

Gene: FBN1

Linked Data

• ClinVar Variation Id: 547350
• ClinVar RCV Id: RCV000659588
• dbSNP Id: rs1555393524
• gnomAD v4: 15-48411115-T-A
• MyVariant Identifiers: chr15:g.48703312T>A (hg19) ; chr15:g.48411115T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411115T>A , CM000677.2:g.48411115T>A	GRCh38
NC_000015.9:g.48703312T>A , CM000677.1:g.48703312T>A	GRCh37
NC_000015.8:g.46490604T>A	NCBI36
NG_008805.2:g.239674A>T , LRG_778:g.239674A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1299A>T	ENSP00000453958.2:n.*1299A>T
ENST00000674301.2:c.*2004A>T	ENSP00000501333.2:n.*2004A>T
ENST00000682158.1:n.1872A>T
ENST00000682170.1:n.2672A>T
ENST00000682767.1:n.1788A>T
ENST00000316623.10:c.8491A>T MANE Select	ENSP00000325527.5:p.Ile2831Phe
ENST00000674301.1:c.3657A>T	ENSP00000501333.1:n.3657A>T
ENST00000316623.9:c.8491A>T	ENSP00000325527.5:p.Ile2831Phe
ENST00000559133.5:c.3860A>T
NM_000138.4:c.8491A>T , LRG_778t1:c.8491A>T	NP_000129.3:p.Ile2831Phe
NM_000138.5:c.8491A>T MANE Select	NP_000129.3:p.Ile2831Phe