Canonical Allele Identifier: CA059664
Gene: FBN1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.48412654G>A
GRCh37 chr15:g.48704851G>A
Revel Score:
ENST00000316623 (MANE Select) 0.488
gnomAD v2:
15:48704851 G / A
gnomAD v3:
15:48412654 G / A
gnomAD v4:
chr15-48412654-G-A
Joint Max Group AF 0.00016561 (AFR)
Genomes Max Group AF 0.00014868 (AFR)
Exomes Max Group AF 0.00011826 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48412654G>A , CM000677.2:g.48412654G>A GRCh38
NC_000015.9:g.48704851G>A , CM000677.1:g.48704851G>A GRCh37
NC_000015.8:g.46492143G>A NCBI36
NG_008805.2:g.238135C>T , LRG_778:g.238135C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*949C>T ENSP00000453958.2:n.*949C>T
ENST00000674301.2:c.*1654C>T ENSP00000501333.2:n.*1654C>T
ENST00000682158.1:n.1522C>T
ENST00000682170.1:n.2322C>T
ENST00000682767.1:n.1438C>T
ENST00000316623.10:c.8141C>T MANE Select ENSP00000325527.5:p.Ala2714Val
ENST00000674301.1:c.3307C>T ENSP00000501333.1:n.3307C>T
ENST00000316623.9:c.8141C>T ENSP00000325527.5:p.Ala2714Val
ENST00000559133.5:c.3510C>T
ENST00000561429.1:n.396C>T
NM_000138.4:c.8141C>T , LRG_778t1:c.8141C>T NP_000129.3:p.Ala2714Val
NM_000138.5:c.8141C>T MANE Select NP_000129.3:p.Ala2714Val
Search 100 bp 5'
Search 100 bp 3'