Canonical Allele Identifier: CA058775
Gene: FBN1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.48421963G>A
GRCh37 chr15:g.48714160G>A
Revel Score:
ENST00000316623 (MANE Select) 0.656
gnomAD v2:
15:48714160 G / A
gnomAD v3:
15:48421963 G / A
gnomAD v4:
chr15-48421963-G-A
Joint Max Group AF 0.00017097 (EAS)
Exomes Max Group AF 0.00017455 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48421963G>A , CM000677.2:g.48421963G>A GRCh38
NC_000015.9:g.48714160G>A , CM000677.1:g.48714160G>A GRCh37
NC_000015.8:g.46501452G>A NCBI36
NG_008805.2:g.228826C>T , LRG_778:g.228826C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*367C>T ENSP00000453958.2:n.*367C>T
ENST00000674301.2:c.*1072C>T ENSP00000501333.2:n.*1072C>T
ENST00000682170.1:n.1740C>T
ENST00000682767.1:n.856C>T
ENST00000316623.10:c.7559C>T MANE Select ENSP00000325527.5:p.Thr2520Met
ENST00000674301.1:c.2725C>T ENSP00000501333.1:n.2725C>T
ENST00000316623.9:c.7559C>T ENSP00000325527.5:p.Thr2520Met
ENST00000559133.5:c.2928C>T
NM_000138.4:c.7559C>T , LRG_778t1:c.7559C>T NP_000129.3:p.Thr2520Met
NM_000138.5:c.7559C>T MANE Select NP_000129.3:p.Thr2520Met
Search 100 bp 5'
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