Canonical Allele Identifier: CA269518564
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs989782818
gnomAD v2: 15-48702945-A-T
gnomAD v3: 15-48410748-A-T
gnomAD v4: 15-48410748-A-T
MyVariant Identifiers: chr15:g.48702945A>T (hg19) chr15:g.48410748A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48410748A>T , CM000677.2:g.48410748A>T GRCh38
NC_000015.9:g.48702945A>T , CM000677.1:g.48702945A>T GRCh37
NC_000015.8:g.46490237A>T NCBI36
NG_008805.2:g.240041T>A , LRG_778:g.240041T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1666T>A ENSP00000453958.2:n.*1666T>A
ENST00000682158.1:n.2239T>A
ENST00000682170.1:n.3039T>A
ENST00000682767.1:n.2155T>A
ENST00000316623.10:c.*242T>A MANE Select ENSP00000325527.5:n.*242T>A
ENST00000316623.9:c.*242T>A ENSP00000325527.5:n.*242T>A
ENST00000559133.5:c.4227T>A
NM_000138.4:c.*242T>A , LRG_778t1:c.*242T>A NP_000129.3:n.*242T>A
NM_000138.5:c.*242T>A MANE Select NP_000129.3:n.*242T>A
Search 100 bp 5'
Search 100 bp 3'