Canonical Allele Identifier: CA060135

Gene: FBN1

Linked Data

• ClinVar Variation Id: 924542
• ClinVar RCV Id: RCV001185915 ; RCV002559093 ; RCV004008560
• dbSNP Id: rs755903722
• ExAC: 15:48703279 G / A
• gnomAD v2: 15-48703279-G-A
• gnomAD v3: 15-48411082-G-A
• gnomAD v4: 15-48411082-G-A
• MyVariant Identifiers: chr15:g.48703279G>A (hg19) ; chr15:g.48411082G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411082G>A , CM000677.2:g.48411082G>A	GRCh38
NC_000015.9:g.48703279G>A , CM000677.1:g.48703279G>A	GRCh37
NC_000015.8:g.46490571G>A	NCBI36
NG_008805.2:g.239707C>T , LRG_778:g.239707C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1332C>T	ENSP00000453958.2:n.*1332C>T
ENST00000682158.1:n.1905C>T
ENST00000682170.1:n.2705C>T
ENST00000682767.1:n.1821C>T
ENST00000316623.10:c.8524C>T MANE Select	ENSP00000325527.5:p.Leu2842Phe
ENST00000316623.9:c.8524C>T	ENSP00000325527.5:p.Leu2842Phe
ENST00000559133.5:c.3893C>T
NM_000138.4:c.8524C>T , LRG_778t1:c.8524C>T	NP_000129.3:p.Leu2842Phe
NM_000138.5:c.8524C>T MANE Select	NP_000129.3:p.Leu2842Phe