Canonical Allele Identifier: CA2804067587
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48422397G>T , CM000677.2:g.48422397G>T GRCh38
NC_000015.9:g.48714594G>T , CM000677.1:g.48714594G>T GRCh37
NC_000015.8:g.46501886G>T NCBI36
NG_008805.2:g.228392C>A , LRG_778:g.228392C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*262-329C>A ENSP00000453958.2:n.*262-329C>A
ENST00000674301.2:c.*967-329C>A ENSP00000501333.2:n.*967-329C>A
ENST00000682170.1:n.1635-329C>A
ENST00000682767.1:n.751-329C>A
ENST00000316623.10:c.7454-329C>A MANE Select ENSP00000325527.5:n.7454-329C>A
ENST00000674301.1:c.2620-329C>A ENSP00000501333.1:n.2620-329C>A
ENST00000316623.9:c.7454-329C>A ENSP00000325527.5:n.7454-329C>A
ENST00000559133.5:c.2823-329C>A
NM_000138.4:c.7454-329C>A , LRG_778t1:c.7454-329C>A NP_000129.3:n.7454-329C>A
NM_000138.5:c.7454-329C>A MANE Select NP_000129.3:n.7454-329C>A
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