Canonical Allele Identifier: CA392330333
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48427756A>C , CM000677.2:g.48427756A>C GRCh38
NC_000015.9:g.48719953A>C , CM000677.1:g.48719953A>C GRCh37
NC_000015.8:g.46507245A>C NCBI36
NG_008805.2:g.223033T>G , LRG_778:g.223033T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.7077T>G ENSP00000453958.2:p.Thr2359=
ENST00000674301.2:c.*528T>G ENSP00000501333.2:n.*528T>G
ENST00000682170.1:n.1196T>G
ENST00000682767.1:n.312T>G
ENST00000316623.10:c.7015T>G MANE Select ENSP00000325527.5:p.Cys2339Gly
ENST00000674301.1:c.2181T>G ENSP00000501333.1:n.2181T>G
ENST00000316623.9:c.7015T>G ENSP00000325527.5:p.Cys2339Gly
ENST00000559133.5:c.2384T>G
NM_000138.4:c.7015T>G , LRG_778t1:c.7015T>G NP_000129.3:p.Cys2339Gly
NM_000138.5:c.7015T>G MANE Select NP_000129.3:p.Cys2339Gly
Search 100 bp 5'
Search 100 bp 3'