Canonical Allele Identifier: CA10603448
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 280287
dbSNP Id: rs363808

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445375C>T , CM000677.2:g.48445375C>T GRCh38
NC_000015.9:g.48737572C>T , CM000677.1:g.48737572C>T GRCh37
NC_000015.8:g.46524864C>T NCBI36
NG_008805.2:g.205414G>A , LRG_778:g.205414G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+1G>A ENSP00000453958.2:n.5917+1G>A
ENST00000674301.2:c.5917+1G>A ENSP00000501333.2:n.5917+1G>A
ENST00000684448.1:n.4591+1G>A
ENST00000316623.10:c.5917+1G>A MANE Select ENSP00000325527.5:n.5917+1G>A
ENST00000674301.1:c.916+1G>A ENSP00000501333.1:n.916+1G>A
ENST00000316623.9:c.5917+1G>A ENSP00000325527.5:n.5917+1G>A
ENST00000537463.6:c.*1680+1G>A ENSP00000440294.2:n.*1680+1G>A
ENST00000559133.5:c.1224+1G>A
ENST00000560820.1:n.37+1G>A
NM_000138.4:c.5917+1G>A , LRG_778t1:c.5917+1G>A NP_000129.3:n.5917+1G>A
NM_000138.5:c.5917+1G>A MANE Select NP_000129.3:n.5917+1G>A