Canonical Allele Identifier: CA392318450
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48703218A>C (hg19) chr15:g.48411021A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48411021A>C , CM000677.2:g.48411021A>C GRCh38
NC_000015.9:g.48703218A>C , CM000677.1:g.48703218A>C GRCh37
NC_000015.8:g.46490510A>C NCBI36
NG_008805.2:g.239768T>G , LRG_778:g.239768T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1393T>G ENSP00000453958.2:n.*1393T>G
ENST00000682158.1:n.1966T>G
ENST00000682170.1:n.2766T>G
ENST00000682767.1:n.1882T>G
ENST00000316623.10:c.8585T>G MANE Select ENSP00000325527.5:p.Leu2862Arg
ENST00000316623.9:c.8585T>G ENSP00000325527.5:p.Leu2862Arg
ENST00000559133.5:c.3954T>G
NM_000138.4:c.8585T>G , LRG_778t1:c.8585T>G NP_000129.3:p.Leu2862Arg
NM_000138.5:c.8585T>G MANE Select NP_000129.3:p.Leu2862Arg
Search 100 bp 5'
Search 100 bp 3'