Canonical Allele Identifier: CA015799

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200063
• ClinVar RCV Id: RCV000181543 ; RCV000468318 ; RCV000587722 ; RCV000663784 ; RCV002314682
• dbSNP Id: rs761857514
• ExAC: 15:48744873 C / T
• gnomAD v2: 15-48744873-C-T
• gnomAD v4: 15-48452676-C-T
• MyVariant Identifiers: chr15:g.48744873C>T (hg19) ; chr15:g.48452676C>T (hg38)
• PubMed: PMID:17627385 ; PMID:17657824 ; PMID:18435798 ; PMID:23684891 ; PMID:23744319

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48452676C>T , CM000677.2:g.48452676C>T	GRCh38
NC_000015.9:g.48744873C>T , CM000677.1:g.48744873C>T	GRCh37
NC_000015.8:g.46532165C>T	NCBI36
NG_008805.2:g.198113G>A , LRG_778:g.198113G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5431G>A	ENSP00000453958.2:p.Glu1811Lys
ENST00000674301.2:c.5431G>A	ENSP00000501333.2:p.Glu1811Lys
ENST00000684448.1:n.4105G>A
ENST00000316623.10:c.5431G>A MANE Select	ENSP00000325527.5:p.Glu1811Lys
ENST00000674301.1:c.430G>A	ENSP00000501333.1:p.Glu144Lys
ENST00000316623.9:c.5431G>A	ENSP00000325527.5:p.Glu1811Lys
ENST00000537463.6:c.*1194G>A	ENSP00000440294.2:n.*1194G>A
ENST00000559133.5:c.738G>A
NM_000138.4:c.5431G>A , LRG_778t1:c.5431G>A	NP_000129.3:p.Glu1811Lys
NM_000138.5:c.5431G>A MANE Select	NP_000129.3:p.Glu1811Lys