Canonical Allele Identifier: CA969578803
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v3: 15-48410072-G-A
gnomAD v4: 15-48410072-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48410072G>A , CM000677.2:g.48410072G>A GRCh38
NC_000015.9:g.48702269G>A , CM000677.1:g.48702269G>A GRCh37
NC_000015.8:g.46489561G>A NCBI36
NG_008805.2:g.240717C>T , LRG_778:g.240717C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682170.1:n.3715C>T
ENST00000682767.1:n.2831C>T
ENST00000316623.10:c.*918C>T MANE Select ENSP00000325527.5:n.*918C>T
ENST00000316623.9:c.*918C>T ENSP00000325527.5:n.*918C>T
NM_000138.4:c.*918C>T , LRG_778t1:c.*918C>T NP_000129.3:n.*918C>T
NM_000138.5:c.*918C>T MANE Select NP_000129.3:n.*918C>T
Search 100 bp 5'
Search 100 bp 3'