Canonical Allele Identifier: CA392336274
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48436967A>G , CM000677.2:g.48436967A>G GRCh38
NC_000015.9:g.48729164A>G , CM000677.1:g.48729164A>G GRCh37
NC_000015.8:g.46516456A>G NCBI36
NG_008805.2:g.213822T>C , LRG_778:g.213822T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6490T>C ENSP00000453958.2:p.Cys2164Arg
ENST00000674301.2:c.6490T>C ENSP00000501333.2:p.Cys2164Arg
ENST00000682170.1:n.99T>C
ENST00000316623.10:c.6490T>C MANE Select ENSP00000325527.5:p.Cys2164Arg
ENST00000674301.1:c.1489T>C ENSP00000501333.1:p.Cys497Arg
ENST00000316623.9:c.6490T>C ENSP00000325527.5:p.Cys2164Arg
ENST00000537463.6:c.*2253T>C ENSP00000440294.2:n.*2253T>C
ENST00000559133.5:c.1797T>C
NM_000138.4:c.6490T>C , LRG_778t1:c.6490T>C NP_000129.3:p.Cys2164Arg
NM_000138.5:c.6490T>C MANE Select NP_000129.3:p.Cys2164Arg
Search 100 bp 5'
Search 100 bp 3'