Canonical Allele Identifier: CA047216

Gene: FBN1

Linked Data

• ClinVar Variation Id: 439715
• ClinVar RCV Id: RCV000507032 ; RCV001176834 ; RCV001857268 ; RCV002481638 ; RCV004003558 ; RCV004535641
• dbSNP Id: rs761942436
• ExAC: 15:48789528 C / T
• gnomAD v2: 15-48789528-C-T
• gnomAD v3: 15-48497331-C-T
• gnomAD v4: 15-48497331-C-T
• COSMIC: COSM5499900
• MyVariant Identifiers: chr15:g.48789528C>T (hg19) ; chr15:g.48497331C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48497331C>T , CM000677.2:g.48497331C>T	GRCh38
NC_000015.9:g.48789528C>T , CM000677.1:g.48789528C>T	GRCh37
NC_000015.8:g.46576820C>T	NCBI36
NG_008805.2:g.153458G>A , LRG_778:g.153458G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2228G>A	ENSP00000453958.2:p.Arg743His
ENST00000674301.2:c.2228G>A	ENSP00000501333.2:p.Arg743His
ENST00000684448.1:n.902G>A
ENST00000316623.10:c.2228G>A MANE Select	ENSP00000325527.5:p.Arg743His
ENST00000316623.9:c.2228G>A	ENSP00000325527.5:p.Arg743His
ENST00000537463.6:c.637-22681G>A	ENSP00000440294.2:n.637-22681G>A
NM_000138.4:c.2228G>A , LRG_778t1:c.2228G>A	NP_000129.3:p.Arg743His
NM_000138.5:c.2228G>A MANE Select	NP_000129.3:p.Arg743His