Canonical Allele Identifier: CA2628329272
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48483785-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48483785G>T , CM000677.2:g.48483785G>T GRCh38
NC_000015.9:g.48775982G>T , CM000677.1:g.48775982G>T GRCh37
NC_000015.8:g.46563274G>T NCBI36
NG_008805.2:g.167004C>A , LRG_778:g.167004C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.3838+33C>A ENSP00000453958.2:n.3838+33C>A
ENST00000674301.2:c.3838+33C>A ENSP00000501333.2:n.3838+33C>A
ENST00000684448.1:n.2512+33C>A
ENST00000316623.10:c.3838+33C>A MANE Select ENSP00000325527.5:n.3838+33C>A
ENST00000316623.9:c.3838+33C>A ENSP00000325527.5:n.3838+33C>A
ENST00000537463.6:c.637-9135C>A ENSP00000440294.2:n.637-9135C>A
NM_000138.4:c.3838+33C>A , LRG_778t1:c.3838+33C>A NP_000129.3:n.3838+33C>A
NM_000138.5:c.3838+33C>A MANE Select NP_000129.3:n.3838+33C>A
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