Canonical Allele Identifier: CA054423
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs779555895

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48410939T>C , CM000677.2:g.48410939T>C GRCh38
NC_000015.9:g.48703136T>C , CM000677.1:g.48703136T>C GRCh37
NC_000015.8:g.46490428T>C NCBI36
NG_008805.2:g.239850A>G , LRG_778:g.239850A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1475A>G ENSP00000453958.2:n.*1475A>G
ENST00000682158.1:n.2048A>G
ENST00000682170.1:n.2848A>G
ENST00000682767.1:n.1964A>G
ENST00000316623.10:c.*51A>G MANE Select ENSP00000325527.5:n.*51A>G
ENST00000316623.9:c.*51A>G ENSP00000325527.5:n.*51A>G
ENST00000559133.5:c.4036A>G
NM_000138.4:c.*51A>G , LRG_778t1:c.*51A>G NP_000129.3:n.*51A>G
NM_000138.5:c.*51A>G MANE Select NP_000129.3:n.*51A>G