Canonical Allele Identifier: CA055122

Gene: FBN1

Linked Data

• ClinVar Variation Id: 519783
• ClinVar RCV Id: RCV001584440 ; RCV002313269 ; RCV003106002 ; RCV003889938
• dbSNP Id: rs765387131
• ExAC: 15:48744786 G / A
• gnomAD v2: 15-48744786-G-A
• gnomAD v3: 15-48452589-G-A
• gnomAD v4: 15-48452589-G-A
• COSMIC: COSM1206710
• MyVariant Identifiers: chr15:g.48744786G>A (hg19) ; chr15:g.48452589G>A (hg38)
• ERepo: CA055122/MONDO:0007947/022

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48452589G>A , CM000677.2:g.48452589G>A	GRCh38
NC_000015.9:g.48744786G>A , CM000677.1:g.48744786G>A	GRCh37
NC_000015.8:g.46532078G>A	NCBI36
NG_008805.2:g.198200C>T , LRG_778:g.198200C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5518C>T	ENSP00000453958.2:p.Arg1840Cys
ENST00000674301.2:c.5518C>T	ENSP00000501333.2:p.Arg1840Cys
ENST00000684448.1:n.4192C>T
ENST00000316623.10:c.5518C>T MANE Select	ENSP00000325527.5:p.Arg1840Cys
ENST00000674301.1:c.517C>T	ENSP00000501333.1:p.Arg173Cys
ENST00000316623.9:c.5518C>T	ENSP00000325527.5:p.Arg1840Cys
ENST00000537463.6:c.*1281C>T	ENSP00000440294.2:n.*1281C>T
ENST00000559133.5:c.825C>T
NM_000138.4:c.5518C>T , LRG_778t1:c.5518C>T	NP_000129.3:p.Arg1840Cys
NM_000138.5:c.5518C>T MANE Select	NP_000129.3:p.Arg1840Cys