Canonical Allele Identifier: CA392321645

Gene: FBN1

Linked Data

• dbSNP Id: rs1464168530
• gnomAD v2: 15-48704933-C-T
• gnomAD v4: 15-48412736-C-T
• MyVariant Identifiers: chr15:g.48704933C>T (hg19) ; chr15:g.48412736C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412736C>T , CM000677.2:g.48412736C>T	GRCh38
NC_000015.9:g.48704933C>T , CM000677.1:g.48704933C>T	GRCh37
NC_000015.8:g.46492225C>T	NCBI36
NG_008805.2:g.238053G>A , LRG_778:g.238053G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*867G>A	ENSP00000453958.2:n.*867G>A
ENST00000674301.2:c.*1572G>A	ENSP00000501333.2:n.*1572G>A
ENST00000682158.1:n.1440G>A
ENST00000682170.1:n.2240G>A
ENST00000682767.1:n.1356G>A
ENST00000316623.10:c.8059G>A MANE Select	ENSP00000325527.5:p.Val2687Ile
ENST00000674301.1:c.3225G>A	ENSP00000501333.1:n.3225G>A
ENST00000316623.9:c.8059G>A	ENSP00000325527.5:p.Val2687Ile
ENST00000559133.5:c.3428G>A
ENST00000561429.1:n.314G>A
NM_000138.4:c.8059G>A , LRG_778t1:c.8059G>A	NP_000129.3:p.Val2687Ile
NM_000138.5:c.8059G>A MANE Select	NP_000129.3:p.Val2687Ile