Canonical Allele Identifier: CA392318598

Gene: FBN1

Linked Data

• ClinVar Variation Id: 3072515
• ClinVar RCV Id: RCV004013537
• dbSNP Id: rs199846998
• MyVariant Identifiers: chr15:g.48703261T>C (hg19) ; chr15:g.48411064T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411064T>C , CM000677.2:g.48411064T>C	GRCh38
NC_000015.9:g.48703261T>C , CM000677.1:g.48703261T>C	GRCh37
NC_000015.8:g.46490553T>C	NCBI36
NG_008805.2:g.239725A>G , LRG_778:g.239725A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1350A>G	ENSP00000453958.2:n.*1350A>G
ENST00000682158.1:n.1923A>G
ENST00000682170.1:n.2723A>G
ENST00000682767.1:n.1839A>G
ENST00000316623.10:c.8542A>G MANE Select	ENSP00000325527.5:p.Lys2848Glu
ENST00000316623.9:c.8542A>G	ENSP00000325527.5:p.Lys2848Glu
ENST00000559133.5:c.3911A>G
NM_000138.4:c.8542A>G , LRG_778t1:c.8542A>G	NP_000129.3:p.Lys2848Glu
NM_000138.5:c.8542A>G MANE Select	NP_000129.3:p.Lys2848Glu