Canonical Allele Identifier: CA016860
Gene: FBN1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.48428411C>T
GRCh37 chr15:g.48720608C>T
Revel Score:
ENST00000316623 (MANE Select) 0.291
ENST00000389087 0.291
gnomAD v2:
15:48720608 C / T
gnomAD v3:
15:48428411 C / T
gnomAD v4:
chr15-48428411-C-T
Joint Max Group AF 0.00013697 (EAS)
Genomes Max Group AF 0.0000683 (EAS)
Exomes Max Group AF 0.00011819 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48428411C>T , CM000677.2:g.48428411C>T GRCh38
NC_000015.9:g.48720608C>T , CM000677.1:g.48720608C>T GRCh37
NC_000015.8:g.46507900C>T NCBI36
NG_008805.2:g.222378G>A , LRG_778:g.222378G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6932G>A ENSP00000453958.2:p.Arg2311His
ENST00000674301.2:c.*383G>A ENSP00000501333.2:n.*383G>A
ENST00000682170.1:n.541G>A
ENST00000682767.1:n.167G>A
ENST00000316623.10:c.6932G>A MANE Select ENSP00000325527.5:p.Arg2311His
ENST00000674301.1:c.2036G>A ENSP00000501333.1:n.2036G>A
ENST00000316623.9:c.6932G>A ENSP00000325527.5:p.Arg2311His
ENST00000559133.5:c.2239G>A
ENST00000560720.1:n.219G>A
NM_000138.4:c.6932G>A , LRG_778t1:c.6932G>A NP_000129.3:p.Arg2311His
NM_000138.5:c.6932G>A MANE Select NP_000129.3:p.Arg2311His
Search 100 bp 5'
Search 100 bp 3'