Canonical Allele Identifier: CA2628325012
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48410919-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48410919A>C , CM000677.2:g.48410919A>C GRCh38
NC_000015.9:g.48703116A>C , CM000677.1:g.48703116A>C GRCh37
NC_000015.8:g.46490408A>C NCBI36
NG_008805.2:g.239870T>G , LRG_778:g.239870T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1495T>G ENSP00000453958.2:n.*1495T>G
ENST00000682158.1:n.2068T>G
ENST00000682170.1:n.2868T>G
ENST00000682767.1:n.1984T>G
ENST00000316623.10:c.*71T>G MANE Select ENSP00000325527.5:n.*71T>G
ENST00000316623.9:c.*71T>G ENSP00000325527.5:n.*71T>G
ENST00000559133.5:c.4056T>G
NM_000138.4:c.*71T>G , LRG_778t1:c.*71T>G NP_000129.3:n.*71T>G
NM_000138.5:c.*71T>G MANE Select NP_000129.3:n.*71T>G
Search 100 bp 5'
Search 100 bp 3'