Canonical Allele Identifier: CA392323375
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48415723A>G , CM000677.2:g.48415723A>G GRCh38
NC_000015.9:g.48707920A>G , CM000677.1:g.48707920A>G GRCh37
NC_000015.8:g.46495212A>G NCBI36
NG_008805.2:g.235066T>C , LRG_778:g.235066T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*672T>C ENSP00000453958.2:n.*672T>C
ENST00000674301.2:c.*1377T>C ENSP00000501333.2:n.*1377T>C
ENST00000682158.1:n.1245T>C
ENST00000682170.1:n.2045T>C
ENST00000682767.1:n.1161T>C
ENST00000316623.10:c.7864T>C MANE Select ENSP00000325527.5:p.Cys2622Arg
ENST00000674301.1:c.3030T>C ENSP00000501333.1:n.3030T>C
ENST00000316623.9:c.7864T>C ENSP00000325527.5:p.Cys2622Arg
ENST00000559133.5:c.3233T>C
ENST00000561429.1:n.119T>C
NM_000138.4:c.7864T>C , LRG_778t1:c.7864T>C NP_000129.3:p.Cys2622Arg
NM_000138.5:c.7864T>C MANE Select NP_000129.3:p.Cys2622Arg
Search 100 bp 5'
Search 100 bp 3'