Canonical Allele Identifier: CA16614404

Gene: FBN1

Linked Data

• ClinVar Variation Id: 406266
• ClinVar RCV Id: RCV001380947
• dbSNP Id: rs1060501016
• MyVariant Identifiers: chr15:g.48720592A>T (hg19) ; chr15:g.48428395A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428395A>T , CM000677.2:g.48428395A>T	GRCh38
NC_000015.9:g.48720592A>T , CM000677.1:g.48720592A>T	GRCh37
NC_000015.8:g.46507884A>T	NCBI36
NG_008805.2:g.222394T>A , LRG_778:g.222394T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6948T>A	ENSP00000453958.2:p.Cys2316Ter
ENST00000674301.2:c.*399T>A	ENSP00000501333.2:n.*399T>A
ENST00000682170.1:n.557T>A
ENST00000682767.1:n.183T>A
ENST00000316623.10:c.6948T>A MANE Select	ENSP00000325527.5:p.Cys2316Ter
ENST00000674301.1:c.2052T>A	ENSP00000501333.1:n.2052T>A
ENST00000316623.9:c.6948T>A	ENSP00000325527.5:p.Cys2316Ter
ENST00000559133.5:c.2255T>A
ENST00000560720.1:n.235T>A
NM_000138.4:c.6948T>A , LRG_778t1:c.6948T>A	NP_000129.3:p.Cys2316Ter
NM_000138.5:c.6948T>A MANE Select	NP_000129.3:p.Cys2316Ter