Canonical Allele Identifier: CA2175574409
Gene: FBN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48612906A= , CM000677.2:g.48612906A= GRCh38
NC_000015.9:g.48905103A= , CM000677.1:g.48905103A= GRCh37
NC_000015.8:g.46692395A= NCBI36
NG_008805.2:g.37883T= , LRG_778:g.37883T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.247+104T= ENSP00000453958.2:n.247+104T=
ENST00000674301.2:c.247+104T= ENSP00000501333.2:n.247+104T=
ENST00000316623.10:c.247+104T= MANE Select ENSP00000325527.5:n.247+104T=
ENST00000316623.9:c.247+104T= ENSP00000325527.5:n.247+104T=
ENST00000537463.6:c.247+104T= ENSP00000440294.2:n.247+104T=
NM_000138.4:c.247+104T= , LRG_778t1:c.247+104T= NP_000129.3:n.247+104T=
NM_000138.5:c.247+104T= MANE Select NP_000129.3:n.247+104T=
Search 100 bp 5'
Search 100 bp 3'