Canonical Allele Identifier: CA392332993
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48430804T>C , CM000677.2:g.48430804T>C GRCh38
NC_000015.9:g.48723001T>C , CM000677.1:g.48723001T>C GRCh37
NC_000015.8:g.46510293T>C NCBI36
NG_008805.2:g.219985A>G , LRG_778:g.219985A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6740-2A>G ENSP00000453958.2:n.6740-2A>G
ENST00000674301.2:c.*191-2A>G ENSP00000501333.2:n.*191-2A>G
ENST00000682170.1:n.349-2A>G
ENST00000316623.10:c.6740-2A>G MANE Select ENSP00000325527.5:n.6740-2A>G
ENST00000674301.1:c.1844-2A>G ENSP00000501333.1:n.1844-2A>G
ENST00000316623.9:c.6740-2A>G ENSP00000325527.5:n.6740-2A>G
ENST00000537463.6:c.*2503-2A>G ENSP00000440294.2:n.*2503-2A>G
ENST00000559133.5:c.2047-2A>G
ENST00000560720.1:n.27-2A>G
NM_000138.4:c.6740-2A>G , LRG_778t1:c.6740-2A>G NP_000129.3:n.6740-2A>G
NM_000138.5:c.6740-2A>G MANE Select NP_000129.3:n.6740-2A>G
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