Canonical Allele Identifier: CA713379590

Gene: FBN1

Linked Data

• dbSNP Id: rs1308598786
• MyVariant Identifiers: chr15:g.48703699T>C (hg19) ; chr15:g.48411502T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411502T>C , CM000677.2:g.48411502T>C	GRCh38
NC_000015.9:g.48703699T>C , CM000677.1:g.48703699T>C	GRCh37
NC_000015.8:g.46490991T>C	NCBI36
NG_008805.2:g.239287A>G , LRG_778:g.239287A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1035-123A>G	ENSP00000453958.2:n.*1035-123A>G
ENST00000674301.2:c.*1740-123A>G	ENSP00000501333.2:n.*1740-123A>G
ENST00000682158.1:n.1608-123A>G
ENST00000682170.1:n.2408-123A>G
ENST00000682767.1:n.1524-123A>G
ENST00000316623.10:c.8227-123A>G MANE Select	ENSP00000325527.5:n.8227-123A>G
ENST00000674301.1:c.3393-123A>G	ENSP00000501333.1:n.3393-123A>G
ENST00000316623.9:c.8227-123A>G	ENSP00000325527.5:n.8227-123A>G
ENST00000559133.5:c.3596-123A>G
ENST00000561429.1:n.482-123A>G
NM_000138.4:c.8227-123A>G , LRG_778t1:c.8227-123A>G	NP_000129.3:n.8227-123A>G
NM_000138.5:c.8227-123A>G MANE Select	NP_000129.3:n.8227-123A>G