Canonical Allele Identifier: CA2175512739
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445005T= , CM000677.2:g.48445005T= GRCh38
NC_000015.9:g.48737202T= , CM000677.1:g.48737202T= GRCh37
NC_000015.8:g.46524494T= NCBI36
NG_008805.2:g.205784A= , LRG_778:g.205784A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5918-345A= ENSP00000453958.2:n.5918-345A=
ENST00000674301.2:c.5918-345A= ENSP00000501333.2:n.5918-345A=
ENST00000684448.1:n.4592-345A=
ENST00000316623.10:c.5918-345A= MANE Select ENSP00000325527.5:n.5918-345A=
ENST00000674301.1:c.917-345A= ENSP00000501333.1:n.917-345A=
ENST00000316623.9:c.5918-345A= ENSP00000325527.5:n.5918-345A=
ENST00000537463.6:c.*1681-345A= ENSP00000440294.2:n.*1681-345A=
ENST00000559133.5:c.1225-345A=
ENST00000560820.1:n.38-345A=
NM_000138.4:c.5918-345A= , LRG_778t1:c.5918-345A= NP_000129.3:n.5918-345A=
NM_000138.5:c.5918-345A= MANE Select NP_000129.3:n.5918-345A=
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