Canonical Allele Identifier: CA060541
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs771774410

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48520847C>T , CM000677.2:g.48520847C>T GRCh38
NC_000015.9:g.48813044C>T , CM000677.1:g.48813044C>T GRCh37
NC_000015.8:g.46600336C>T NCBI36
NG_008805.2:g.129942G>A , LRG_778:g.129942G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.989-30G>A ENSP00000453958.2:n.989-30G>A
ENST00000674301.2:c.989-30G>A ENSP00000501333.2:n.989-30G>A
ENST00000316623.10:c.989-30G>A MANE Select ENSP00000325527.5:n.989-30G>A
ENST00000316623.9:c.989-30G>A ENSP00000325527.5:n.989-30G>A
ENST00000537463.6:c.636+16864G>A ENSP00000440294.2:n.636+16864G>A
NM_000138.4:c.989-30G>A , LRG_778t1:c.989-30G>A NP_000129.3:n.989-30G>A
NM_000138.5:c.989-30G>A MANE Select NP_000129.3:n.989-30G>A