Canonical Allele Identifier: CA016962
Gene: FBN1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.48427720C>T
GRCh37 chr15:g.48719917C>T
Revel Score:
ENST00000316623 (MANE Select) 0.359
gnomAD v2:
15:48719917 C / T
gnomAD v3:
15:48427720 C / T
gnomAD v4:
chr15-48427720-C-T
Joint Max Group AF 0.00003473 (AFR)
Genomes Max Group AF 0.00005291 (AMR)
Exomes Max Group AF 0.00002375 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48427720C>T , CM000677.2:g.48427720C>T GRCh38
NC_000015.9:g.48719917C>T , CM000677.1:g.48719917C>T GRCh37
NC_000015.8:g.46507209C>T NCBI36
NG_008805.2:g.223069G>A , LRG_778:g.223069G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.7113G>A ENSP00000453958.2:p.Ser2371=
ENST00000674301.2:c.*564G>A ENSP00000501333.2:n.*564G>A
ENST00000682170.1:n.1232G>A
ENST00000682767.1:n.348G>A
ENST00000316623.10:c.7051G>A MANE Select ENSP00000325527.5:p.Gly2351Ser
ENST00000674301.1:c.2217G>A ENSP00000501333.1:n.2217G>A
ENST00000316623.9:c.7051G>A ENSP00000325527.5:p.Gly2351Ser
ENST00000559133.5:c.2420G>A
NM_000138.4:c.7051G>A , LRG_778t1:c.7051G>A NP_000129.3:p.Gly2351Ser
NM_000138.5:c.7051G>A MANE Select NP_000129.3:p.Gly2351Ser
Search 100 bp 5'
Search 100 bp 3'