Canonical Allele Identifier: CA2175520439
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48472541C= , CM000677.2:g.48472541C= GRCh38
NC_000015.9:g.48764738C= , CM000677.1:g.48764738C= GRCh37
NC_000015.8:g.46552030C= NCBI36
NG_008805.2:g.178248G= , LRG_778:g.178248G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4336+10G= ENSP00000453958.2:n.4336+10G=
ENST00000674301.2:c.4336+10G= ENSP00000501333.2:n.4336+10G=
ENST00000683268.1:n.303+10G=
ENST00000684448.1:n.3010+10G=
ENST00000316623.10:c.4336+10G= MANE Select ENSP00000325527.5:n.4336+10G=
ENST00000316623.9:c.4336+10G= ENSP00000325527.5:n.4336+10G=
ENST00000537463.6:c.*99+10G= ENSP00000440294.2:n.*99+10G=
NM_000138.4:c.4336+10G= , LRG_778t1:c.4336+10G= NP_000129.3:n.4336+10G=
NM_000138.5:c.4336+10G= MANE Select NP_000129.3:n.4336+10G=
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