Canonical Allele Identifier: CA2175526447
Gene: FBN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48494526G= , CM000677.2:g.48494526G= GRCh38
NC_000015.9:g.48786723G= , CM000677.1:g.48786723G= GRCh37
NC_000015.8:g.46574015G= NCBI36
NG_008805.2:g.156263C= , LRG_778:g.156263C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.2678-272C= ENSP00000453958.2:n.2678-272C=
ENST00000674301.2:c.2678-272C= ENSP00000501333.2:n.2678-272C=
ENST00000684448.1:n.1352-272C=
ENST00000316623.10:c.2678-272C= MANE Select ENSP00000325527.5:n.2678-272C=
ENST00000316623.9:c.2678-272C= ENSP00000325527.5:n.2678-272C=
ENST00000537463.6:c.637-19876C= ENSP00000440294.2:n.637-19876C=
NM_000138.4:c.2678-272C= , LRG_778t1:c.2678-272C= NP_000129.3:n.2678-272C=
NM_000138.5:c.2678-272C= MANE Select NP_000129.3:n.2678-272C=
Search 100 bp 5'
Search 100 bp 3'