Canonical Allele Identifier: CA392319096
Gene: FBN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48411183T>G , CM000677.2:g.48411183T>G GRCh38
NC_000015.9:g.48703380T>G , CM000677.1:g.48703380T>G GRCh37
NC_000015.8:g.46490672T>G NCBI36
NG_008805.2:g.239606A>C , LRG_778:g.239606A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1231A>C ENSP00000453958.2:n.*1231A>C
ENST00000674301.2:c.*1936A>C ENSP00000501333.2:n.*1936A>C
ENST00000682158.1:n.1804A>C
ENST00000682170.1:n.2604A>C
ENST00000682767.1:n.1720A>C
ENST00000316623.10:c.8423A>C MANE Select ENSP00000325527.5:p.Gln2808Pro
ENST00000674301.1:c.3589A>C ENSP00000501333.1:n.3589A>C
ENST00000316623.9:c.8423A>C ENSP00000325527.5:p.Gln2808Pro
ENST00000559133.5:c.3792A>C
NM_000138.4:c.8423A>C , LRG_778t1:c.8423A>C NP_000129.3:p.Gln2808Pro
NM_000138.5:c.8423A>C MANE Select NP_000129.3:p.Gln2808Pro