Canonical Allele Identifier: CA050267

Gene: FBN1

Linked Data

• ClinVar Variation Id: 457191
• ClinVar RCV Id: RCV000556661 ; RCV000663623 ; RCV001191187 ; RCV002476105
• dbSNP Id: rs763485521
• ExAC: 15:48780352 C / T
• gnomAD v2: 15-48780352-C-T
• gnomAD v3: 15-48488155-C-T
• gnomAD v4: 15-48488155-C-T
• MyVariant Identifiers: chr15:g.48780352C>T (hg19) ; chr15:g.48488155C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48488155C>T , CM000677.2:g.48488155C>T	GRCh38
NC_000015.9:g.48780352C>T , CM000677.1:g.48780352C>T	GRCh37
NC_000015.8:g.46567644C>T	NCBI36
NG_008805.2:g.162634G>A , LRG_778:g.162634G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3295G>A	ENSP00000453958.2:p.Glu1099Lys
ENST00000674301.2:c.3295G>A	ENSP00000501333.2:p.Glu1099Lys
ENST00000684448.1:n.1969G>A
ENST00000316623.10:c.3295G>A MANE Select	ENSP00000325527.5:p.Glu1099Lys
ENST00000316623.9:c.3295G>A	ENSP00000325527.5:p.Glu1099Lys
ENST00000537463.6:c.637-13505G>A	ENSP00000440294.2:n.637-13505G>A
NM_000138.4:c.3295G>A , LRG_778t1:c.3295G>A	NP_000129.3:p.Glu1099Lys
NM_000138.5:c.3295G>A MANE Select	NP_000129.3:p.Glu1099Lys