Canonical Allele Identifier: CA059678
Gene: FBN1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.48412646C>T
GRCh37 chr15:g.48704843C>T
Revel Score:
ENST00000316623 (MANE Select) 0.559
gnomAD v2:
15:48704843 C / T
gnomAD v3:
15:48412646 C / T
gnomAD v4:
chr15-48412646-C-T
Joint Max Group AF 0.00022079 (AMR)
Genomes Max Group AF 0.00003761 (NFE)
Exomes Max Group AF 0.00025942 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48412646C>T , CM000677.2:g.48412646C>T GRCh38
NC_000015.9:g.48704843C>T , CM000677.1:g.48704843C>T GRCh37
NC_000015.8:g.46492135C>T NCBI36
NG_008805.2:g.238143G>A , LRG_778:g.238143G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*957G>A ENSP00000453958.2:n.*957G>A
ENST00000674301.2:c.*1662G>A ENSP00000501333.2:n.*1662G>A
ENST00000682158.1:n.1530G>A
ENST00000682170.1:n.2330G>A
ENST00000682767.1:n.1446G>A
ENST00000316623.10:c.8149G>A MANE Select ENSP00000325527.5:p.Glu2717Lys
ENST00000674301.1:c.3315G>A ENSP00000501333.1:n.3315G>A
ENST00000316623.9:c.8149G>A ENSP00000325527.5:p.Glu2717Lys
ENST00000559133.5:c.3518G>A
ENST00000561429.1:n.404G>A
NM_000138.4:c.8149G>A , LRG_778t1:c.8149G>A NP_000129.3:p.Glu2717Lys
NM_000138.5:c.8149G>A MANE Select NP_000129.3:p.Glu2717Lys
Search 100 bp 5'
Search 100 bp 3'