Canonical Allele Identifier: CA017830

Gene: FBN1

Linked Data

• dbSNP Id: rs1555393486
• MyVariant Identifiers: chr15:g.48703204G>A (hg19) ; chr15:g.48411007G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411007G>A , CM000677.2:g.48411007G>A	GRCh38
NC_000015.9:g.48703204G>A , CM000677.1:g.48703204G>A	GRCh37
NC_000015.8:g.46490496G>A	NCBI36
NG_008805.2:g.239782C>T , LRG_778:g.239782C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*1407C>T	ENSP00000453958.2:n.*1407C>T
ENST00000682158.1:n.1980C>T
ENST00000682170.1:n.2780C>T
ENST00000682767.1:n.1896C>T
ENST00000316623.10:c.8599C>T MANE Select	ENSP00000325527.5:p.Gln2867Ter
ENST00000316623.9:c.8599C>T	ENSP00000325527.5:p.Gln2867Ter
ENST00000559133.5:c.3968C>T
NM_000138.4:c.8599C>T , LRG_778t1:c.8599C>T	NP_000129.3:p.Gln2867Ter
NM_000138.5:c.8599C>T MANE Select	NP_000129.3:p.Gln2867Ter