Canonical Allele Identifier: CA490118808
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48703262G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48411065G>A , CM000677.2:g.48411065G>A GRCh38
NC_000015.9:g.48703262G>A , CM000677.1:g.48703262G>A GRCh37
NC_000015.8:g.46490554G>A NCBI36
NG_008805.2:g.239724C>T , LRG_778:g.239724C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1349C>T ENSP00000453958.2:n.*1349C>T
ENST00000682158.1:n.1922C>T
ENST00000682170.1:n.2722C>T
ENST00000682767.1:n.1838C>T
ENST00000316623.10:c.8541C>T MANE Select ENSP00000325527.5:p.Asp2847=
ENST00000316623.9:c.8541C>T ENSP00000325527.5:p.Asp2847=
ENST00000559133.5:c.3910C>T
NM_000138.4:c.8541C>T , LRG_778t1:c.8541C>T NP_000129.3:p.Asp2847=
NM_000138.5:c.8541C>T MANE Select NP_000129.3:p.Asp2847=