Canonical Allele Identifier: CA2628325021
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48410936-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48410936T>C , CM000677.2:g.48410936T>C GRCh38
NC_000015.9:g.48703133T>C , CM000677.1:g.48703133T>C GRCh37
NC_000015.8:g.46490425T>C NCBI36
NG_008805.2:g.239853A>G , LRG_778:g.239853A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1478A>G ENSP00000453958.2:n.*1478A>G
ENST00000682158.1:n.2051A>G
ENST00000682170.1:n.2851A>G
ENST00000682767.1:n.1967A>G
ENST00000316623.10:c.*54A>G MANE Select ENSP00000325527.5:n.*54A>G
ENST00000316623.9:c.*54A>G ENSP00000325527.5:n.*54A>G
ENST00000559133.5:c.4039A>G
NM_000138.4:c.*54A>G , LRG_778t1:c.*54A>G NP_000129.3:n.*54A>G
NM_000138.5:c.*54A>G MANE Select NP_000129.3:n.*54A>G
Search 100 bp 5'
Search 100 bp 3'