Canonical Allele Identifier: CA2175498450
Gene: FBN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48448850C= , CM000677.2:g.48448850C= GRCh38
NC_000015.9:g.48741047C= , CM000677.1:g.48741047C= GRCh37
NC_000015.8:g.46528339C= NCBI36
NG_008805.2:g.201939G= , LRG_778:g.201939G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5589G= ENSP00000453958.2:p.Gly1863=
ENST00000674301.2:c.5589G= ENSP00000501333.2:p.Gly1863=
ENST00000684448.1:n.4263G=
ENST00000316623.10:c.5589G= MANE Select ENSP00000325527.5:p.Gly1863=
ENST00000674301.1:c.588G= ENSP00000501333.1:p.Gly196=
ENST00000316623.9:c.5589G= ENSP00000325527.5:p.Gly1863=
ENST00000537463.6:c.*1352G= ENSP00000440294.2:n.*1352G=
ENST00000559133.5:c.896G=
NM_000138.4:c.5589G= , LRG_778t1:c.5589G= NP_000129.3:p.Gly1863=
NM_000138.5:c.5589G= MANE Select NP_000129.3:p.Gly1863=