Canonical Allele Identifier: CA017816

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200136
• ClinVar RCV Id: RCV000181637 ; RCV001178820 ; RCV002485196 ; RCV003996701 ; RCV001362745
• dbSNP Id: rs371939796
• ExAC: 15:48703252 T / C
• gnomAD v2: 15-48703252-T-C
• gnomAD v3: 15-48411055-T-C
• gnomAD v4: 15-48411055-T-C
• MyVariant Identifiers: chr15:g.48703252T>C (hg19) ; chr15:g.48411055T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411055T>C , CM000677.2:g.48411055T>C	GRCh38
NC_000015.9:g.48703252T>C , CM000677.1:g.48703252T>C	GRCh37
NC_000015.8:g.46490544T>C	NCBI36
NG_008805.2:g.239734A>G , LRG_778:g.239734A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1359A>G	ENSP00000453958.2:n.*1359A>G
ENST00000682158.1:n.1932A>G
ENST00000682170.1:n.2732A>G
ENST00000682767.1:n.1848A>G
ENST00000316623.10:c.8551A>G MANE Select	ENSP00000325527.5:p.Lys2851Glu
ENST00000316623.9:c.8551A>G	ENSP00000325527.5:p.Lys2851Glu
ENST00000559133.5:c.3920A>G
NM_000138.4:c.8551A>G , LRG_778t1:c.8551A>G	NP_000129.3:p.Lys2851Glu
NM_000138.5:c.8551A>G MANE Select	NP_000129.3:p.Lys2851Glu