Canonical Allele Identifier: CA2175496534
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48434380G= , CM000677.2:g.48434380G= GRCh38
NC_000015.9:g.48726577G= , CM000677.1:g.48726577G= GRCh37
NC_000015.8:g.46513869G= NCBI36
NG_008805.2:g.216409C= , LRG_778:g.216409C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6616+214C= ENSP00000453958.2:n.6616+214C=
ENST00000674301.2:c.6617-168C= ENSP00000501333.2:n.6617-168C=
ENST00000682170.1:n.225+214C=
ENST00000316623.10:c.6616+214C= MANE Select ENSP00000325527.5:n.6616+214C=
ENST00000674301.1:c.1616-168C= ENSP00000501333.1:n.1616-168C=
ENST00000316623.9:c.6616+214C= ENSP00000325527.5:n.6616+214C=
ENST00000537463.6:c.*2379+214C= ENSP00000440294.2:n.*2379+214C=
ENST00000559133.5:c.1923+214C=
NM_000138.4:c.6616+214C= , LRG_778t1:c.6616+214C= NP_000129.3:n.6616+214C=
NM_000138.5:c.6616+214C= MANE Select NP_000129.3:n.6616+214C=
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