Canonical Allele Identifier: CA392327704

Gene: FBN1

Linked Data

• dbSNP Id: rs1297696298
• gnomAD v2: 15-48717596-T-A
• gnomAD v4: 15-48425399-T-A
• MyVariant Identifiers: chr15:g.48717596T>A (hg19) ; chr15:g.48425399T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425399T>A , CM000677.2:g.48425399T>A	GRCh38
NC_000015.9:g.48717596T>A , CM000677.1:g.48717596T>A	GRCh37
NC_000015.8:g.46504888T>A	NCBI36
NG_008805.2:g.225390A>T , LRG_778:g.225390A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*231A>T	ENSP00000453958.2:n.*231A>T
ENST00000674301.2:c.*936A>T	ENSP00000501333.2:n.*936A>T
ENST00000682170.1:n.1604A>T
ENST00000682767.1:n.720A>T
ENST00000316623.10:c.7423A>T MANE Select	ENSP00000325527.5:p.Ile2475Phe
ENST00000674301.1:c.2589A>T	ENSP00000501333.1:n.2589A>T
ENST00000316623.9:c.7423A>T	ENSP00000325527.5:p.Ile2475Phe
ENST00000559133.5:c.2792A>T
NM_000138.4:c.7423A>T , LRG_778t1:c.7423A>T	NP_000129.3:p.Ile2475Phe
NM_000138.5:c.7423A>T MANE Select	NP_000129.3:p.Ile2475Phe