Canonical Allele Identifier: CA059025

Gene: FBN1

Linked Data

• dbSNP Id: rs765924733
• ExAC: 15:48713715 A / T
• gnomAD v2: 15-48713715-A-T
• gnomAD v3: 15-48421518-A-T
• gnomAD v4: 15-48421518-A-T
• MyVariant Identifiers: chr15:g.48713715A>T (hg19) ; chr15:g.48421518A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421518A>T , CM000677.2:g.48421518A>T	GRCh38
NC_000015.9:g.48713715A>T , CM000677.1:g.48713715A>T	GRCh37
NC_000015.8:g.46501007A>T	NCBI36
NG_008805.2:g.229271T>A , LRG_778:g.229271T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*507+40T>A	ENSP00000453958.2:n.*507+40T>A
ENST00000674301.2:c.*1212+40T>A	ENSP00000501333.2:n.*1212+40T>A
ENST00000682170.1:n.1880+40T>A
ENST00000682767.1:n.996+40T>A
ENST00000316623.10:c.7699+40T>A MANE Select	ENSP00000325527.5:n.7699+40T>A
ENST00000674301.1:c.2865+40T>A	ENSP00000501333.1:n.2865+40T>A
ENST00000316623.9:c.7699+40T>A	ENSP00000325527.5:n.7699+40T>A
ENST00000559133.5:c.3068+40T>A
NM_000138.4:c.7699+40T>A , LRG_778t1:c.7699+40T>A	NP_000129.3:n.7699+40T>A
NM_000138.5:c.7699+40T>A MANE Select	NP_000129.3:n.7699+40T>A