Canonical Allele Identifier: CA490118839

Gene: FBN1

Linked Data

• dbSNP Id: rs1411645863
• MyVariant Identifiers: chr15:g.48703274G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411077G>A , CM000677.2:g.48411077G>A	GRCh38
NC_000015.9:g.48703274G>A , CM000677.1:g.48703274G>A	GRCh37
NC_000015.8:g.46490566G>A	NCBI36
NG_008805.2:g.239712C>T , LRG_778:g.239712C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1337C>T	ENSP00000453958.2:n.*1337C>T
ENST00000682158.1:n.1910C>T
ENST00000682170.1:n.2710C>T
ENST00000682767.1:n.1826C>T
ENST00000316623.10:c.8529C>T MANE Select	ENSP00000325527.5:p.Asn2843=
ENST00000316623.9:c.8529C>T	ENSP00000325527.5:p.Asn2843=
ENST00000559133.5:c.3898C>T
NM_000138.4:c.8529C>T , LRG_778t1:c.8529C>T	NP_000129.3:p.Asn2843=
NM_000138.5:c.8529C>T MANE Select	NP_000129.3:p.Asn2843=