Canonical Allele Identifier: CA392318439
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2141209469

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48411016T>C , CM000677.2:g.48411016T>C GRCh38
NC_000015.9:g.48703213T>C , CM000677.1:g.48703213T>C GRCh37
NC_000015.8:g.46490505T>C NCBI36
NG_008805.2:g.239773A>G , LRG_778:g.239773A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1398A>G ENSP00000453958.2:n.*1398A>G
ENST00000682158.1:n.1971A>G
ENST00000682170.1:n.2771A>G
ENST00000682767.1:n.1887A>G
ENST00000316623.10:c.8590A>G MANE Select ENSP00000325527.5:p.Met2864Val
ENST00000316623.9:c.8590A>G ENSP00000325527.5:p.Met2864Val
ENST00000559133.5:c.3959A>G
NM_000138.4:c.8590A>G , LRG_778t1:c.8590A>G NP_000129.3:p.Met2864Val
NM_000138.5:c.8590A>G MANE Select NP_000129.3:p.Met2864Val