Canonical Allele Identifier: CA392324921

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1071449
• ClinVar RCV Id: RCV001383926
• dbSNP Id: rs2141221739
• MyVariant Identifiers: chr15:g.48713758C>A (hg19) ; chr15:g.48421561C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421561C>A , CM000677.2:g.48421561C>A	GRCh38
NC_000015.9:g.48713758C>A , CM000677.1:g.48713758C>A	GRCh37
NC_000015.8:g.46501050C>A	NCBI36
NG_008805.2:g.229228G>T , LRG_778:g.229228G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*504G>T	ENSP00000453958.2:n.*504G>T
ENST00000674301.2:c.*1209G>T	ENSP00000501333.2:n.*1209G>T
ENST00000682170.1:n.1877G>T
ENST00000682767.1:n.993G>T
ENST00000316623.10:c.7696G>T MANE Select	ENSP00000325527.5:p.Glu2566Ter
ENST00000674301.1:c.2862G>T	ENSP00000501333.1:n.2862G>T
ENST00000316623.9:c.7696G>T	ENSP00000325527.5:p.Glu2566Ter
ENST00000559133.5:c.3065G>T
NM_000138.4:c.7696G>T , LRG_778t1:c.7696G>T	NP_000129.3:p.Glu2566Ter
NM_000138.5:c.7696G>T MANE Select	NP_000129.3:p.Glu2566Ter