Canonical Allele Identifier: CA017375

Gene: FBN1

Linked Data

• ClinVar Variation Id: 36119
• ClinVar RCV Id: RCV000029781 ; RCV000181599 ; RCV002313722
• dbSNP Id: rs193922236
• MyVariant Identifiers: chr15:g.48712897C>T (hg19) ; chr15:g.48420700C>T (hg38)
• PubMed: PMID:19293843

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48420700C>T , CM000677.2:g.48420700C>T	GRCh38
NC_000015.9:g.48712897C>T , CM000677.1:g.48712897C>T	GRCh37
NC_000015.8:g.46500189C>T	NCBI36
NG_008805.2:g.230089G>A , LRG_778:g.230089G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*614G>A	ENSP00000453958.2:n.*614G>A
ENST00000674301.2:c.*1319G>A	ENSP00000501333.2:n.*1319G>A
ENST00000682170.1:n.1987G>A
ENST00000682767.1:n.1103G>A
ENST00000316623.10:c.7806G>A MANE Select	ENSP00000325527.5:p.Trp2602Ter
ENST00000674301.1:c.2972G>A	ENSP00000501333.1:n.2972G>A
ENST00000316623.9:c.7806G>A	ENSP00000325527.5:p.Trp2602Ter
ENST00000559133.5:c.3175G>A
NM_000138.4:c.7806G>A , LRG_778t1:c.7806G>A	NP_000129.3:p.Trp2602Ter
NM_000138.5:c.7806G>A MANE Select	NP_000129.3:p.Trp2602Ter