Canonical Allele Identifier: CA490118682
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 925519
ClinVar RCV Id: RCV001187495 RCV002068467 RCV004008703
dbSNP Id: rs1566888537
gnomAD v3: 15-48411008-G-T
gnomAD v4: 15-48411008-G-T
MyVariant Identifiers: chr15:g.48703205G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48411008G>T , CM000677.2:g.48411008G>T GRCh38
NC_000015.9:g.48703205G>T , CM000677.1:g.48703205G>T GRCh37
NC_000015.8:g.46490497G>T NCBI36
NG_008805.2:g.239781C>A , LRG_778:g.239781C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1406C>A ENSP00000453958.2:n.*1406C>A
ENST00000682158.1:n.1979C>A
ENST00000682170.1:n.2779C>A
ENST00000682767.1:n.1895C>A
ENST00000316623.10:c.8598C>A MANE Select ENSP00000325527.5:p.Ile2866=
ENST00000316623.9:c.8598C>A ENSP00000325527.5:p.Ile2866=
ENST00000559133.5:c.3967C>A
NM_000138.4:c.8598C>A , LRG_778t1:c.8598C>A NP_000129.3:p.Ile2866=
NM_000138.5:c.8598C>A MANE Select NP_000129.3:p.Ile2866=
Search 100 bp 5'
Search 100 bp 3'