Canonical Allele Identifier: CA2628324919
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48410769-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48410769G>T , CM000677.2:g.48410769G>T GRCh38
NC_000015.9:g.48702966G>T , CM000677.1:g.48702966G>T GRCh37
NC_000015.8:g.46490258G>T NCBI36
NG_008805.2:g.240020C>A , LRG_778:g.240020C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1645C>A ENSP00000453958.2:n.*1645C>A
ENST00000682158.1:n.2218C>A
ENST00000682170.1:n.3018C>A
ENST00000682767.1:n.2134C>A
ENST00000316623.10:c.*221C>A MANE Select ENSP00000325527.5:n.*221C>A
ENST00000316623.9:c.*221C>A ENSP00000325527.5:n.*221C>A
ENST00000559133.5:c.4206C>A
NM_000138.4:c.*221C>A , LRG_778t1:c.*221C>A NP_000129.3:n.*221C>A
NM_000138.5:c.*221C>A MANE Select NP_000129.3:n.*221C>A
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