Canonical Allele Identifier: CA055263
Gene: FBN1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.48448857C>T
GRCh37 chr15:g.48741054C>T
Revel Score:
ENST00000316623 (MANE Select) 0.419
ENST00000389087 0.419
ENST00000544030 0.419
gnomAD v2:
15:48741054 C / T
gnomAD v3:
15:48448857 C / T
gnomAD v4:
chr15-48448857-C-T
Joint Max Group AF 0.00000616 (NFE)
Exomes Max Group AF 0.00000576 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48448857C>T , CM000677.2:g.48448857C>T GRCh38
NC_000015.9:g.48741054C>T , CM000677.1:g.48741054C>T GRCh37
NC_000015.8:g.46528346C>T NCBI36
NG_008805.2:g.201932G>A , LRG_778:g.201932G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5582G>A ENSP00000453958.2:p.Ser1861Asn
ENST00000674301.2:c.5582G>A ENSP00000501333.2:p.Ser1861Asn
ENST00000684448.1:n.4256G>A
ENST00000316623.10:c.5582G>A MANE Select ENSP00000325527.5:p.Ser1861Asn
ENST00000674301.1:c.581G>A ENSP00000501333.1:p.Ser194Asn
ENST00000316623.9:c.5582G>A ENSP00000325527.5:p.Ser1861Asn
ENST00000537463.6:c.*1345G>A ENSP00000440294.2:n.*1345G>A
ENST00000559133.5:c.889G>A
NM_000138.4:c.5582G>A , LRG_778t1:c.5582G>A NP_000129.3:p.Ser1861Asn
NM_000138.5:c.5582G>A MANE Select NP_000129.3:p.Ser1861Asn
Search 100 bp 5'
Search 100 bp 3'