Canonical Allele Identifier: CA2575716482
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48410978C>G , CM000677.2:g.48410978C>G GRCh38
NC_000015.9:g.48703175C>G , CM000677.1:g.48703175C>G GRCh37
NC_000015.8:g.46490467C>G NCBI36
NG_008805.2:g.239811G>C , LRG_778:g.239811G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.*1436G>C ENSP00000453958.2:n.*1436G>C
ENST00000682158.1:n.2009G>C
ENST00000682170.1:n.2809G>C
ENST00000682767.1:n.1925G>C
ENST00000316623.10:c.*12G>C MANE Select ENSP00000325527.5:n.*12G>C
ENST00000316623.9:c.*12G>C ENSP00000325527.5:n.*12G>C
ENST00000559133.5:c.3997G>C
NM_000138.4:c.*12G>C , LRG_778t1:c.*12G>C NP_000129.3:n.*12G>C
NM_000138.5:c.*12G>C MANE Select NP_000129.3:n.*12G>C
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