Canonical Allele Identifier: CA490014765

Gene: FBN1

Linked Data

• dbSNP Id: rs1487230540
• MyVariant Identifiers: chr15:g.48704904G>A (hg19) ; chr15:g.48412707G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412707G>A , CM000677.2:g.48412707G>A	GRCh38
NC_000015.9:g.48704904G>A , CM000677.1:g.48704904G>A	GRCh37
NC_000015.8:g.46492196G>A	NCBI36
NG_008805.2:g.238082C>T , LRG_778:g.238082C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*896C>T	ENSP00000453958.2:n.*896C>T
ENST00000674301.2:c.*1601C>T	ENSP00000501333.2:n.*1601C>T
ENST00000682158.1:n.1469C>T
ENST00000682170.1:n.2269C>T
ENST00000682767.1:n.1385C>T
ENST00000316623.10:c.8088C>T MANE Select	ENSP00000325527.5:p.Asn2696=
ENST00000674301.1:c.3254C>T	ENSP00000501333.1:n.3254C>T
ENST00000316623.9:c.8088C>T	ENSP00000325527.5:p.Asn2696=
ENST00000559133.5:c.3457C>T
ENST00000561429.1:n.343C>T
NM_000138.4:c.8088C>T , LRG_778t1:c.8088C>T	NP_000129.3:p.Asn2696=
NM_000138.5:c.8088C>T MANE Select	NP_000129.3:p.Asn2696=