Canonical Allele Identifier: CA2175518286
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48468113T= , CM000677.2:g.48468113T= GRCh38
NC_000015.9:g.48760310T= , CM000677.1:g.48760310T= GRCh37
NC_000015.8:g.46547602T= NCBI36
NG_008805.2:g.182676A= , LRG_778:g.182676A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4583-11A= ENSP00000453958.2:n.4583-11A=
ENST00000674301.2:c.4583-11A= ENSP00000501333.2:n.4583-11A=
ENST00000684448.1:n.3257-11A=
ENST00000316623.10:c.4583-11A= MANE Select ENSP00000325527.5:n.4583-11A=
ENST00000316623.9:c.4583-11A= ENSP00000325527.5:n.4583-11A=
ENST00000537463.6:c.*346-11A= ENSP00000440294.2:n.*346-11A=
NM_000138.4:c.4583-11A= , LRG_778t1:c.4583-11A= NP_000129.3:n.4583-11A=
NM_000138.5:c.4583-11A= MANE Select NP_000129.3:n.4583-11A=
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