Canonical Allele Identifier: CA016768

Gene: FBN1

Linked Data

• ClinVar Variation Id: 42411
• ClinVar RCV Id: RCV000035256
• dbSNP Id: rs397515840
• MyVariant Identifiers: chr15:g.48722898G>A (hg19) ; chr15:g.48430701G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430701G>A , CM000677.2:g.48430701G>A	GRCh38
NC_000015.9:g.48722898G>A , CM000677.1:g.48722898G>A	GRCh37
NC_000015.8:g.46510190G>A	NCBI36
NG_008805.2:g.220088C>T , LRG_778:g.220088C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6841C>T	ENSP00000453958.2:p.Gln2281Ter
ENST00000674301.2:c.*292C>T	ENSP00000501333.2:n.*292C>T
ENST00000682170.1:n.450C>T
ENST00000316623.10:c.6841C>T MANE Select	ENSP00000325527.5:p.Gln2281Ter
ENST00000674301.1:c.1945C>T	ENSP00000501333.1:n.1945C>T
ENST00000316623.9:c.6841C>T	ENSP00000325527.5:p.Gln2281Ter
ENST00000559133.5:c.2148C>T
ENST00000560720.1:n.128C>T
NM_000138.4:c.6841C>T , LRG_778t1:c.6841C>T	NP_000129.3:p.Gln2281Ter
NM_000138.5:c.6841C>T MANE Select	NP_000129.3:p.Gln2281Ter