Canonical Allele Identifier: CA2175485868
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48410643A= , CM000677.2:g.48410643A= GRCh38
NC_000015.9:g.48702840A= , CM000677.1:g.48702840A= GRCh37
NC_000015.8:g.46490132A= NCBI36
NG_008805.2:g.240146T= , LRG_778:g.240146T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1771T= ENSP00000453958.2:n.*1771T=
ENST00000682158.1:n.2344T=
ENST00000682170.1:n.3144T=
ENST00000682767.1:n.2260T=
ENST00000316623.10:c.*347T= MANE Select ENSP00000325527.5:n.*347T=
ENST00000316623.9:c.*347T= ENSP00000325527.5:n.*347T=
ENST00000559133.5:c.4332T=
NM_000138.4:c.*347T= , LRG_778t1:c.*347T= NP_000129.3:n.*347T=
NM_000138.5:c.*347T= MANE Select NP_000129.3:n.*347T=
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