Canonical Allele Identifier: CA015847

Gene: FBN1

Linked Data

• ClinVar Variation Id: 42386
• ClinVar RCV Id: RCV000035228 ; RCV000588088 ; RCV001798075
• dbSNP Id: rs397515823
• MyVariant Identifiers: chr15:g.48744792C>A (hg19) ; chr15:g.48452595C>A (hg38)
• PubMed: PMID:16476890 ; PMID:21542060 ; PMID:25907466

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48452595C>A , CM000677.2:g.48452595C>A	GRCh38
NC_000015.9:g.48744792C>A , CM000677.1:g.48744792C>A	GRCh37
NC_000015.8:g.46532084C>A	NCBI36
NG_008805.2:g.198194G>T , LRG_778:g.198194G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5512G>T	ENSP00000453958.2:p.Gly1838Cys
ENST00000674301.2:c.5512G>T	ENSP00000501333.2:p.Gly1838Cys
ENST00000684448.1:n.4186G>T
ENST00000316623.10:c.5512G>T MANE Select	ENSP00000325527.5:p.Gly1838Cys
ENST00000674301.1:c.511G>T	ENSP00000501333.1:p.Gly171Cys
ENST00000316623.9:c.5512G>T	ENSP00000325527.5:p.Gly1838Cys
ENST00000537463.6:c.*1275G>T	ENSP00000440294.2:n.*1275G>T
ENST00000559133.5:c.819G>T
NM_000138.4:c.5512G>T , LRG_778t1:c.5512G>T	NP_000129.3:p.Gly1838Cys
NM_000138.5:c.5512G>T MANE Select	NP_000129.3:p.Gly1838Cys