Canonical Allele Identifier: CA2175465139
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48422297G= , CM000677.2:g.48422297G= GRCh38
NC_000015.9:g.48714494G= , CM000677.1:g.48714494G= GRCh37
NC_000015.8:g.46501786G= NCBI36
NG_008805.2:g.228492C= , LRG_778:g.228492C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*262-229C= ENSP00000453958.2:n.*262-229C=
ENST00000674301.2:c.*967-229C= ENSP00000501333.2:n.*967-229C=
ENST00000682170.1:n.1635-229C=
ENST00000682767.1:n.751-229C=
ENST00000316623.10:c.7454-229C= MANE Select ENSP00000325527.5:n.7454-229C=
ENST00000674301.1:c.2620-229C= ENSP00000501333.1:n.2620-229C=
ENST00000316623.9:c.7454-229C= ENSP00000325527.5:n.7454-229C=
ENST00000559133.5:c.2823-229C=
NM_000138.4:c.7454-229C= , LRG_778t1:c.7454-229C= NP_000129.3:n.7454-229C=
NM_000138.5:c.7454-229C= MANE Select NP_000129.3:n.7454-229C=
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