Canonical Allele Identifier: CA713377866
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1399290379

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48410639A>C , CM000677.2:g.48410639A>C GRCh38
NC_000015.9:g.48702836A>C , CM000677.1:g.48702836A>C GRCh37
NC_000015.8:g.46490128A>C NCBI36
NG_008805.2:g.240150T>G , LRG_778:g.240150T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1775T>G ENSP00000453958.2:n.*1775T>G
ENST00000682158.1:n.2348T>G
ENST00000682170.1:n.3148T>G
ENST00000682767.1:n.2264T>G
ENST00000316623.10:c.*351T>G MANE Select ENSP00000325527.5:n.*351T>G
ENST00000316623.9:c.*351T>G ENSP00000325527.5:n.*351T>G
ENST00000559133.5:c.4336T>G
NM_000138.4:c.*351T>G , LRG_778t1:c.*351T>G NP_000129.3:n.*351T>G
NM_000138.5:c.*351T>G MANE Select NP_000129.3:n.*351T>G