Canonical Allele Identifier: CA2804070431
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445636A>C , CM000677.2:g.48445636A>C GRCh38
NC_000015.9:g.48737833A>C , CM000677.1:g.48737833A>C GRCh37
NC_000015.8:g.46525125A>C NCBI36
NG_008805.2:g.205153T>G , LRG_778:g.205153T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5789-132T>G ENSP00000453958.2:n.5789-132T>G
ENST00000674301.2:c.5789-132T>G ENSP00000501333.2:n.5789-132T>G
ENST00000684448.1:n.4463-132T>G
ENST00000316623.10:c.5789-132T>G MANE Select ENSP00000325527.5:n.5789-132T>G
ENST00000674301.1:c.788-132T>G ENSP00000501333.1:n.788-132T>G
ENST00000316623.9:c.5789-132T>G ENSP00000325527.5:n.5789-132T>G
ENST00000537463.6:c.*1552-132T>G ENSP00000440294.2:n.*1552-132T>G
ENST00000559133.5:c.1096-132T>G
NM_000138.4:c.5789-132T>G , LRG_778t1:c.5789-132T>G NP_000129.3:n.5789-132T>G
NM_000138.5:c.5789-132T>G MANE Select NP_000129.3:n.5789-132T>G
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