Canonical Allele Identifier: CA2628324763
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48410592-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48410592G>T , CM000677.2:g.48410592G>T GRCh38
NC_000015.9:g.48702789G>T , CM000677.1:g.48702789G>T GRCh37
NC_000015.8:g.46490081G>T NCBI36
NG_008805.2:g.240197C>A , LRG_778:g.240197C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1822C>A ENSP00000453958.2:n.*1822C>A
ENST00000682158.1:n.2395C>A
ENST00000682170.1:n.3195C>A
ENST00000682767.1:n.2311C>A
ENST00000316623.10:c.*398C>A MANE Select ENSP00000325527.5:n.*398C>A
ENST00000316623.9:c.*398C>A ENSP00000325527.5:n.*398C>A
ENST00000559133.5:c.4383C>A
NM_000138.4:c.*398C>A , LRG_778t1:c.*398C>A NP_000129.3:n.*398C>A
NM_000138.5:c.*398C>A MANE Select NP_000129.3:n.*398C>A
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