Canonical Allele Identifier: CA2175529337
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48508843A= , CM000677.2:g.48508843A= GRCh38
NC_000015.9:g.48801040A= , CM000677.1:g.48801040A= GRCh37
NC_000015.8:g.46588332A= NCBI36
NG_008805.2:g.141946T= , LRG_778:g.141946T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.1715-139T= ENSP00000453958.2:n.1715-139T=
ENST00000674301.2:c.1715-139T= ENSP00000501333.2:n.1715-139T=
ENST00000684448.1:n.389-139T=
ENST00000316623.10:c.1715-139T= MANE Select ENSP00000325527.5:n.1715-139T=
ENST00000316623.9:c.1715-139T= ENSP00000325527.5:n.1715-139T=
ENST00000537463.6:c.636+28868T= ENSP00000440294.2:n.636+28868T=
NM_000138.4:c.1715-139T= , LRG_778t1:c.1715-139T= NP_000129.3:n.1715-139T=
NM_000138.5:c.1715-139T= MANE Select NP_000129.3:n.1715-139T=
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