Canonical Allele Identifier: CA2175465190
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48422337A= , CM000677.2:g.48422337A= GRCh38
NC_000015.9:g.48714534A= , CM000677.1:g.48714534A= GRCh37
NC_000015.8:g.46501826A= NCBI36
NG_008805.2:g.228452T= , LRG_778:g.228452T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*262-269T= ENSP00000453958.2:n.*262-269T=
ENST00000674301.2:c.*967-269T= ENSP00000501333.2:n.*967-269T=
ENST00000682170.1:n.1635-269T=
ENST00000682767.1:n.751-269T=
ENST00000316623.10:c.7454-269T= MANE Select ENSP00000325527.5:n.7454-269T=
ENST00000674301.1:c.2620-269T= ENSP00000501333.1:n.2620-269T=
ENST00000316623.9:c.7454-269T= ENSP00000325527.5:n.7454-269T=
ENST00000559133.5:c.2823-269T=
NM_000138.4:c.7454-269T= , LRG_778t1:c.7454-269T= NP_000129.3:n.7454-269T=
NM_000138.5:c.7454-269T= MANE Select NP_000129.3:n.7454-269T=
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