Canonical Allele Identifier: CA2730592211
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1176976047
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48538110T>A , CM000677.2:g.48538110T>A GRCh38
NC_000015.9:g.48830307T>A , CM000677.1:g.48830307T>A GRCh37
NC_000015.8:g.46617599T>A NCBI36
NG_008805.2:g.112679A>T , LRG_778:g.112679A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.539-302A>T ENSP00000453958.2:n.539-302A>T
ENST00000674301.2:c.539-302A>T ENSP00000501333.2:n.539-302A>T
ENST00000316623.10:c.539-302A>T MANE Select ENSP00000325527.5:n.539-302A>T
ENST00000316623.9:c.539-302A>T ENSP00000325527.5:n.539-302A>T
ENST00000537463.6:c.539-302A>T ENSP00000440294.2:n.539-302A>T
NM_000138.4:c.539-302A>T , LRG_778t1:c.539-302A>T NP_000129.3:n.539-302A>T
NM_000138.5:c.539-302A>T MANE Select NP_000129.3:n.539-302A>T
Search 100 bp 5'
Search 100 bp 3'