Canonical Allele Identifier: CA016065
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42394
dbSNP Id: rs193922219

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48446701C>T , CM000677.2:g.48446701C>T GRCh38
NC_000015.9:g.48738898C>T , CM000677.1:g.48738898C>T GRCh37
NC_000015.8:g.46526190C>T NCBI36
NG_008805.2:g.204088G>A , LRG_778:g.204088G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5788+5G>A ENSP00000453958.2:n.5788+5G>A
ENST00000674301.2:c.5788+5G>A ENSP00000501333.2:n.5788+5G>A
ENST00000684448.1:n.4462+5G>A
ENST00000316623.10:c.5788+5G>A MANE Select ENSP00000325527.5:n.5788+5G>A
ENST00000674301.1:c.787+5G>A ENSP00000501333.1:n.787+5G>A
ENST00000316623.9:c.5788+5G>A ENSP00000325527.5:n.5788+5G>A
ENST00000537463.6:c.*1551+5G>A ENSP00000440294.2:n.*1551+5G>A
ENST00000559133.5:c.1095+5G>A
NM_000138.4:c.5788+5G>A , LRG_778t1:c.5788+5G>A NP_000129.3:n.5788+5G>A
NM_000138.5:c.5788+5G>A MANE Select NP_000129.3:n.5788+5G>A