Canonical Allele Identifier: CA2628324773
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2141208968
gnomAD v4: 15-48410631-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48410631A>C , CM000677.2:g.48410631A>C GRCh38
NC_000015.9:g.48702828A>C , CM000677.1:g.48702828A>C GRCh37
NC_000015.8:g.46490120A>C NCBI36
NG_008805.2:g.240158T>G , LRG_778:g.240158T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1783T>G ENSP00000453958.2:n.*1783T>G
ENST00000682158.1:n.2356T>G
ENST00000682170.1:n.3156T>G
ENST00000682767.1:n.2272T>G
ENST00000316623.10:c.*359T>G MANE Select ENSP00000325527.5:n.*359T>G
ENST00000316623.9:c.*359T>G ENSP00000325527.5:n.*359T>G
ENST00000559133.5:c.4344T>G
NM_000138.4:c.*359T>G , LRG_778t1:c.*359T>G NP_000129.3:n.*359T>G
NM_000138.5:c.*359T>G MANE Select NP_000129.3:n.*359T>G
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