Canonical Allele Identifier: CA017597
Gene: FBN1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.48412619G>A
GRCh37 chr15:g.48704816G>A
Revel Score:
ENST00000316623 (MANE Select) 0.569
gnomAD v2:
15:48704816 G / A
gnomAD v3:
15:48412619 G / A
gnomAD v4:
chr15-48412619-G-A
Joint Max Group AF 0.00149345 (AMR)
Genomes Max Group AF 0.00152213 (AMR)
Exomes Max Group AF 0.00135126 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48412619G>A , CM000677.2:g.48412619G>A GRCh38
NC_000015.9:g.48704816G>A , CM000677.1:g.48704816G>A GRCh37
NC_000015.8:g.46492108G>A NCBI36
NG_008805.2:g.238170C>T , LRG_778:g.238170C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*984C>T ENSP00000453958.2:n.*984C>T
ENST00000674301.2:c.*1689C>T ENSP00000501333.2:n.*1689C>T
ENST00000682158.1:n.1557C>T
ENST00000682170.1:n.2357C>T
ENST00000682767.1:n.1473C>T
ENST00000316623.10:c.8176C>T MANE Select ENSP00000325527.5:p.Arg2726Trp
ENST00000674301.1:c.3342C>T ENSP00000501333.1:n.3342C>T
ENST00000316623.9:c.8176C>T ENSP00000325527.5:p.Arg2726Trp
ENST00000559133.5:c.3545C>T
ENST00000561429.1:n.431C>T
NM_000138.4:c.8176C>T , LRG_778t1:c.8176C>T NP_000129.3:p.Arg2726Trp
NM_000138.5:c.8176C>T MANE Select NP_000129.3:p.Arg2726Trp
Search 100 bp 5'
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