Canonical Allele Identifier: CA2740096665
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2926825
ClinVar RCV Id: RCV003789063
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48510030T>C , CM000677.2:g.48510030T>C GRCh38
NC_000015.9:g.48802227T>C , CM000677.1:g.48802227T>C GRCh37
NC_000015.8:g.46589519T>C NCBI36
NG_008805.2:g.140759A>G , LRG_778:g.140759A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.1714+14A>G ENSP00000453958.2:n.1714+14A>G
ENST00000674301.2:c.1714+14A>G ENSP00000501333.2:n.1714+14A>G
ENST00000684448.1:n.388+14A>G
ENST00000316623.10:c.1714+14A>G MANE Select ENSP00000325527.5:n.1714+14A>G
ENST00000316623.9:c.1714+14A>G ENSP00000325527.5:n.1714+14A>G
ENST00000537463.6:c.636+27681A>G ENSP00000440294.2:n.636+27681A>G
NM_000138.4:c.1714+14A>G , LRG_778t1:c.1714+14A>G NP_000129.3:n.1714+14A>G
NM_000138.5:c.1714+14A>G MANE Select NP_000129.3:n.1714+14A>G
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