Canonical Allele Identifier: CA058980
Gene: FBN1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.48421596C>T
GRCh37 chr15:g.48713793C>T
Revel Score:
ENST00000316623 (MANE Select) 0.646
gnomAD v2:
15:48713793 C / T
gnomAD v3:
15:48421596 C / T
gnomAD v4:
chr15-48421596-C-T
Joint Max Group AF 0.0000511 (NFE)
Genomes Max Group AF 0.00015868 (NFE)
Exomes Max Group AF 0.00004005 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48421596C>T , CM000677.2:g.48421596C>T GRCh38
NC_000015.9:g.48713793C>T , CM000677.1:g.48713793C>T GRCh37
NC_000015.8:g.46501085C>T NCBI36
NG_008805.2:g.229193G>A , LRG_778:g.229193G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*469G>A ENSP00000453958.2:n.*469G>A
ENST00000674301.2:c.*1174G>A ENSP00000501333.2:n.*1174G>A
ENST00000682170.1:n.1842G>A
ENST00000682767.1:n.958G>A
ENST00000316623.10:c.7661G>A MANE Select ENSP00000325527.5:p.Arg2554Gln
ENST00000674301.1:c.2827G>A ENSP00000501333.1:n.2827G>A
ENST00000316623.9:c.7661G>A ENSP00000325527.5:p.Arg2554Gln
ENST00000559133.5:c.3030G>A
NM_000138.4:c.7661G>A , LRG_778t1:c.7661G>A NP_000129.3:p.Arg2554Gln
NM_000138.5:c.7661G>A MANE Select NP_000129.3:p.Arg2554Gln
Search 100 bp 5'
Search 100 bp 3'