Canonical Allele Identifier: CA2175497431
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48428072T= , CM000677.2:g.48428072T= GRCh38
NC_000015.9:g.48720269T= , CM000677.1:g.48720269T= GRCh37
NC_000015.8:g.46507561T= NCBI36
NG_008805.2:g.222717A= , LRG_778:g.222717A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6998-129A= ENSP00000453958.2:n.6998-129A=
ENST00000674301.2:c.*449-129A= ENSP00000501333.2:n.*449-129A=
ENST00000682170.1:n.880A=
ENST00000682767.1:n.233-129A=
ENST00000316623.10:c.6997+274A= MANE Select ENSP00000325527.5:n.6997+274A=
ENST00000674301.1:c.2102-129A= ENSP00000501333.1:n.2102-129A=
ENST00000316623.9:c.6997+274A= ENSP00000325527.5:n.6997+274A=
ENST00000559133.5:c.2305-129A=
ENST00000560720.1:n.558A=
NM_000138.4:c.6997+274A= , LRG_778t1:c.6997+274A= NP_000129.3:n.6997+274A=
NM_000138.5:c.6997+274A= MANE Select NP_000129.3:n.6997+274A=
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