Canonical Allele Identifier: CA15838119
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 680579
ClinVar RCV Id: RCV000840380 RCV003489935
dbSNP Id: rs3929051
gnomAD v2: 15-48720271-C-T
gnomAD v3: 15-48428074-C-T
gnomAD v4: 15-48428074-C-T
MyVariant Identifiers: chr15:g.48720271C>T (hg19) chr15:g.48428074C>T (hg38)
Allelic Epigenome: Alellic Epigenome (raw data)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48428074C>T , CM000677.2:g.48428074C>T GRCh38
NC_000015.9:g.48720271C>T , CM000677.1:g.48720271C>T GRCh37
NC_000015.8:g.46507563C>T NCBI36
NG_008805.2:g.222715G>A , LRG_778:g.222715G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6998-131G>A ENSP00000453958.2:n.6998-131G>A
ENST00000674301.2:c.*449-131G>A ENSP00000501333.2:n.*449-131G>A
ENST00000682170.1:n.878G>A
ENST00000682767.1:n.233-131G>A
ENST00000316623.10:c.6997+272G>A MANE Select ENSP00000325527.5:n.6997+272G>A
ENST00000674301.1:c.2102-131G>A ENSP00000501333.1:n.2102-131G>A
ENST00000316623.9:c.6997+272G>A ENSP00000325527.5:n.6997+272G>A
ENST00000559133.5:c.2305-131G>A
ENST00000560720.1:n.556G>A
NM_000138.4:c.6997+272G>A , LRG_778t1:c.6997+272G>A NP_000129.3:n.6997+272G>A
NM_000138.5:c.6997+272G>A MANE Select NP_000129.3:n.6997+272G>A
Search 100 bp 5'
Search 100 bp 3'