Canonical Allele Identifier: CA392327631

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549409
• ClinVar RCV Id: RCV000663953
• dbSNP Id: rs537570299
• MyVariant Identifiers: chr15:g.48717587C>A (hg19) ; chr15:g.48425390C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425390C>A , CM000677.2:g.48425390C>A	GRCh38
NC_000015.9:g.48717587C>A , CM000677.1:g.48717587C>A	GRCh37
NC_000015.8:g.46504879C>A	NCBI36
NG_008805.2:g.225399G>T , LRG_778:g.225399G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*240G>T	ENSP00000453958.2:n.*240G>T
ENST00000674301.2:c.*945G>T	ENSP00000501333.2:n.*945G>T
ENST00000682170.1:n.1613G>T
ENST00000682767.1:n.729G>T
ENST00000316623.10:c.7432G>T MANE Select	ENSP00000325527.5:p.Glu2478Ter
ENST00000674301.1:c.2598G>T	ENSP00000501333.1:n.2598G>T
ENST00000316623.9:c.7432G>T	ENSP00000325527.5:p.Glu2478Ter
ENST00000559133.5:c.2801G>T
NM_000138.4:c.7432G>T , LRG_778t1:c.7432G>T	NP_000129.3:p.Glu2478Ter
NM_000138.5:c.7432G>T MANE Select	NP_000129.3:p.Glu2478Ter