Canonical Allele Identifier: CA2175515188
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2043519260
gnomAD v4: 15-48487495-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48487495A>T , CM000677.2:g.48487495A>T GRCh38
NC_000015.9:g.48779692A>T , CM000677.1:g.48779692A>T GRCh37
NC_000015.8:g.46566984A>T NCBI36
NG_008805.2:g.163294T>A , LRG_778:g.163294T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3338-58T>A ENSP00000453958.2:n.3338-58T>A
ENST00000674301.2:c.3338-58T>A ENSP00000501333.2:n.3338-58T>A
ENST00000684448.1:n.2012-58T>A
ENST00000316623.10:c.3338-58T>A MANE Select ENSP00000325527.5:n.3338-58T>A
ENST00000316623.9:c.3338-58T>A ENSP00000325527.5:n.3338-58T>A
ENST00000537463.6:c.637-12845T>A ENSP00000440294.2:n.637-12845T>A
NM_000138.4:c.3338-58T>A , LRG_778t1:c.3338-58T>A NP_000129.3:n.3338-58T>A
NM_000138.5:c.3338-58T>A MANE Select NP_000129.3:n.3338-58T>A
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