Canonical Allele Identifier: CA2740096706
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2951941
ClinVar RCV Id: RCV003812628
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48483800T>A , CM000677.2:g.48483800T>A GRCh38
NC_000015.9:g.48775997T>A , CM000677.1:g.48775997T>A GRCh37
NC_000015.8:g.46563289T>A NCBI36
NG_008805.2:g.166989A>T , LRG_778:g.166989A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.3838+18A>T ENSP00000453958.2:n.3838+18A>T
ENST00000674301.2:c.3838+18A>T ENSP00000501333.2:n.3838+18A>T
ENST00000684448.1:n.2512+18A>T
ENST00000316623.10:c.3838+18A>T MANE Select ENSP00000325527.5:n.3838+18A>T
ENST00000316623.9:c.3838+18A>T ENSP00000325527.5:n.3838+18A>T
ENST00000537463.6:c.637-9150A>T ENSP00000440294.2:n.637-9150A>T
NM_000138.4:c.3838+18A>T , LRG_778t1:c.3838+18A>T NP_000129.3:n.3838+18A>T
NM_000138.5:c.3838+18A>T MANE Select NP_000129.3:n.3838+18A>T
Search 100 bp 5'
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