Canonical Allele Identifier: CA2175465337
Gene: FBN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48422416G= , CM000677.2:g.48422416G= GRCh38
NC_000015.9:g.48714613G= , CM000677.1:g.48714613G= GRCh37
NC_000015.8:g.46501905G= NCBI36
NG_008805.2:g.228373C= , LRG_778:g.228373C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*262-348C= ENSP00000453958.2:n.*262-348C=
ENST00000674301.2:c.*967-348C= ENSP00000501333.2:n.*967-348C=
ENST00000682170.1:n.1635-348C=
ENST00000682767.1:n.751-348C=
ENST00000316623.10:c.7454-348C= MANE Select ENSP00000325527.5:n.7454-348C=
ENST00000674301.1:c.2620-348C= ENSP00000501333.1:n.2620-348C=
ENST00000316623.9:c.7454-348C= ENSP00000325527.5:n.7454-348C=
ENST00000559133.5:c.2823-348C=
NM_000138.4:c.7454-348C= , LRG_778t1:c.7454-348C= NP_000129.3:n.7454-348C=
NM_000138.5:c.7454-348C= MANE Select NP_000129.3:n.7454-348C=
Search 100 bp 5'
Search 100 bp 3'