Canonical Allele Identifier: CA2628324940
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48410801-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48410801A>T , CM000677.2:g.48410801A>T GRCh38
NC_000015.9:g.48702998A>T , CM000677.1:g.48702998A>T GRCh37
NC_000015.8:g.46490290A>T NCBI36
NG_008805.2:g.239988T>A , LRG_778:g.239988T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1613T>A ENSP00000453958.2:n.*1613T>A
ENST00000682158.1:n.2186T>A
ENST00000682170.1:n.2986T>A
ENST00000682767.1:n.2102T>A
ENST00000316623.10:c.*189T>A MANE Select ENSP00000325527.5:n.*189T>A
ENST00000316623.9:c.*189T>A ENSP00000325527.5:n.*189T>A
ENST00000559133.5:c.4174T>A
NM_000138.4:c.*189T>A , LRG_778t1:c.*189T>A NP_000129.3:n.*189T>A
NM_000138.5:c.*189T>A MANE Select NP_000129.3:n.*189T>A
Search 100 bp 5'
Search 100 bp 3'