Canonical Allele Identifier: CA051565

Gene: FBN1

Linked Data

• dbSNP Id: rs780492671
• ExAC: 15:48776003 T / A
• gnomAD v2: 15-48776003-T-A
• gnomAD v4: 15-48483806-T-A
• MyVariant Identifiers: chr15:g.48776003T>A (hg19) ; chr15:g.48483806T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48483806T>A , CM000677.2:g.48483806T>A	GRCh38
NC_000015.9:g.48776003T>A , CM000677.1:g.48776003T>A	GRCh37
NC_000015.8:g.46563295T>A	NCBI36
NG_008805.2:g.166983A>T , LRG_778:g.166983A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.3838+12A>T	ENSP00000453958.2:n.3838+12A>T
ENST00000674301.2:c.3838+12A>T	ENSP00000501333.2:n.3838+12A>T
ENST00000684448.1:n.2512+12A>T
ENST00000316623.10:c.3838+12A>T MANE Select	ENSP00000325527.5:n.3838+12A>T
ENST00000316623.9:c.3838+12A>T	ENSP00000325527.5:n.3838+12A>T
ENST00000537463.6:c.637-9156A>T	ENSP00000440294.2:n.637-9156A>T
NM_000138.4:c.3838+12A>T , LRG_778t1:c.3838+12A>T	NP_000129.3:n.3838+12A>T
NM_000138.5:c.3838+12A>T MANE Select	NP_000129.3:n.3838+12A>T