Canonical Allele Identifier: CA2175465330
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48422412T= , CM000677.2:g.48422412T= GRCh38
NC_000015.9:g.48714609T= , CM000677.1:g.48714609T= GRCh37
NC_000015.8:g.46501901T= NCBI36
NG_008805.2:g.228377A= , LRG_778:g.228377A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*262-344A= ENSP00000453958.2:n.*262-344A=
ENST00000674301.2:c.*967-344A= ENSP00000501333.2:n.*967-344A=
ENST00000682170.1:n.1635-344A=
ENST00000682767.1:n.751-344A=
ENST00000316623.10:c.7454-344A= MANE Select ENSP00000325527.5:n.7454-344A=
ENST00000674301.1:c.2620-344A= ENSP00000501333.1:n.2620-344A=
ENST00000316623.9:c.7454-344A= ENSP00000325527.5:n.7454-344A=
ENST00000559133.5:c.2823-344A=
NM_000138.4:c.7454-344A= , LRG_778t1:c.7454-344A= NP_000129.3:n.7454-344A=
NM_000138.5:c.7454-344A= MANE Select NP_000129.3:n.7454-344A=
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