Canonical Allele Identifier: CA490118714
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 926955
ClinVar RCV Id: RCV001189865 RCV002560946
dbSNP Id: rs2042856515
gnomAD v4: 15-48411020-C-T
MyVariant Identifiers: chr15:g.48703217C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48411020C>T , CM000677.2:g.48411020C>T GRCh38
NC_000015.9:g.48703217C>T , CM000677.1:g.48703217C>T GRCh37
NC_000015.8:g.46490509C>T NCBI36
NG_008805.2:g.239769G>A , LRG_778:g.239769G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1394G>A ENSP00000453958.2:n.*1394G>A
ENST00000682158.1:n.1967G>A
ENST00000682170.1:n.2767G>A
ENST00000682767.1:n.1883G>A
ENST00000316623.10:c.8586G>A MANE Select ENSP00000325527.5:p.Leu2862=
ENST00000316623.9:c.8586G>A ENSP00000325527.5:p.Leu2862=
ENST00000559133.5:c.3955G>A
NM_000138.4:c.8586G>A , LRG_778t1:c.8586G>A NP_000129.3:p.Leu2862=
NM_000138.5:c.8586G>A MANE Select NP_000129.3:p.Leu2862=
Search 100 bp 5'
Search 100 bp 3'