Canonical Allele Identifier: CA392318692

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1352148
• ClinVar RCV Id: RCV002047378
• dbSNP Id: rs587782948
• MyVariant Identifiers: chr15:g.48703282C>T (hg19) ; chr15:g.48411085C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411085C>T , CM000677.2:g.48411085C>T	GRCh38
NC_000015.9:g.48703282C>T , CM000677.1:g.48703282C>T	GRCh37
NC_000015.8:g.46490574C>T	NCBI36
NG_008805.2:g.239704G>A , LRG_778:g.239704G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1329G>A	ENSP00000453958.2:n.*1329G>A
ENST00000682158.1:n.1902G>A
ENST00000682170.1:n.2702G>A
ENST00000682767.1:n.1818G>A
ENST00000316623.10:c.8521G>A MANE Select	ENSP00000325527.5:p.Glu2841Lys
ENST00000316623.9:c.8521G>A	ENSP00000325527.5:p.Glu2841Lys
ENST00000559133.5:c.3890G>A
NM_000138.4:c.8521G>A , LRG_778t1:c.8521G>A	NP_000129.3:p.Glu2841Lys
NM_000138.5:c.8521G>A MANE Select	NP_000129.3:p.Glu2841Lys