Canonical Allele Identifier: CA392324563

Gene: FBN1

Linked Data

• ClinVar Variation Id: 495651
• ClinVar RCV Id: RCV000588232 ; RCV000803256 ; RCV003302901
• dbSNP Id: rs397515857
• MyVariant Identifiers: chr15:g.48712919C>T (hg19) ; chr15:g.48420722C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48420722C>T , CM000677.2:g.48420722C>T	GRCh38
NC_000015.9:g.48712919C>T , CM000677.1:g.48712919C>T	GRCh37
NC_000015.8:g.46500211C>T	NCBI36
NG_008805.2:g.230067G>A , LRG_778:g.230067G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*592G>A	ENSP00000453958.2:n.*592G>A
ENST00000674301.2:c.*1297G>A	ENSP00000501333.2:n.*1297G>A
ENST00000682170.1:n.1965G>A
ENST00000682767.1:n.1081G>A
ENST00000316623.10:c.7784G>A MANE Select	ENSP00000325527.5:p.Gly2595Asp
ENST00000674301.1:c.2950G>A	ENSP00000501333.1:n.2950G>A
ENST00000316623.9:c.7784G>A	ENSP00000325527.5:p.Gly2595Asp
ENST00000559133.5:c.3153G>A
NM_000138.4:c.7784G>A , LRG_778t1:c.7784G>A	NP_000129.3:p.Gly2595Asp
NM_000138.5:c.7784G>A MANE Select	NP_000129.3:p.Gly2595Asp