Canonical Allele Identifier: CA2502310936
Gene: FBN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48410747C>T , CM000677.2:g.48410747C>T GRCh38
NC_000015.9:g.48702944C>T , CM000677.1:g.48702944C>T GRCh37
NC_000015.8:g.46490236C>T NCBI36
NG_008805.2:g.240042G>A , LRG_778:g.240042G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.*1667G>A ENSP00000453958.2:n.*1667G>A
ENST00000682158.1:n.2240G>A
ENST00000682170.1:n.3040G>A
ENST00000682767.1:n.2156G>A
ENST00000316623.10:c.*243G>A MANE Select ENSP00000325527.5:n.*243G>A
ENST00000316623.9:c.*243G>A ENSP00000325527.5:n.*243G>A
ENST00000559133.5:c.4228G>A
NM_000138.4:c.*243G>A , LRG_778t1:c.*243G>A NP_000129.3:n.*243G>A
NM_000138.5:c.*243G>A MANE Select NP_000129.3:n.*243G>A
Search 100 bp 5'
Search 100 bp 3'