Canonical Allele Identifier: CA392319575

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549460
• ClinVar RCV Id: RCV000664020
• dbSNP Id: rs1555393556
• MyVariant Identifiers: chr15:g.48703473A>G (hg19) ; chr15:g.48411276A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411276A>G , CM000677.2:g.48411276A>G	GRCh38
NC_000015.9:g.48703473A>G , CM000677.1:g.48703473A>G	GRCh37
NC_000015.8:g.46490765A>G	NCBI36
NG_008805.2:g.239513T>C , LRG_778:g.239513T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1138T>C	ENSP00000453958.2:n.*1138T>C
ENST00000674301.2:c.*1843T>C	ENSP00000501333.2:n.*1843T>C
ENST00000682158.1:n.1711T>C
ENST00000682170.1:n.2511T>C
ENST00000682767.1:n.1627T>C
ENST00000316623.10:c.8330T>C MANE Select	ENSP00000325527.5:p.Ile2777Thr
ENST00000674301.1:c.3496T>C	ENSP00000501333.1:n.3496T>C
ENST00000316623.9:c.8330T>C	ENSP00000325527.5:p.Ile2777Thr
ENST00000559133.5:c.3699T>C
ENST00000561429.1:n.585T>C
NM_000138.4:c.8330T>C , LRG_778t1:c.8330T>C	NP_000129.3:p.Ile2777Thr
NM_000138.5:c.8330T>C MANE Select	NP_000129.3:p.Ile2777Thr