Canonical Allele Identifier: CA012618

Gene: FBN1

Linked Data

• ClinVar Variation Id: 42296
• ClinVar RCV Id: RCV000035130 ; RCV000755193 ; RCV000757273 ; RCV000777703 ; RCV000781355 ; RCV001046446
• dbSNP Id: rs145942328
• ExAC: 15:48905269 C / T
• gnomAD v2: 15-48905269-C-T
• gnomAD v3: 15-48613072-C-T
• gnomAD v4: 15-48613072-C-T
• COSMIC: COSM253260
• MyVariant Identifiers: chr15:g.48905269C>T (hg19) ; chr15:g.48613072C>T (hg38)
• PubMed: PMID:24793577 ; PMID:26621581

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48613072C>T , CM000677.2:g.48613072C>T	GRCh38
NC_000015.9:g.48905269C>T , CM000677.1:g.48905269C>T	GRCh37
NC_000015.8:g.46692561C>T	NCBI36
NG_008805.2:g.37717G>A , LRG_778:g.37717G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.185G>A	ENSP00000453958.2:p.Arg62His
ENST00000674301.2:c.185G>A	ENSP00000501333.2:p.Arg62His
ENST00000316623.10:c.185G>A MANE Select	ENSP00000325527.5:p.Arg62His
ENST00000316623.9:c.185G>A	ENSP00000325527.5:p.Arg62His
ENST00000537463.6:c.185G>A	ENSP00000440294.2:p.Arg62His
NM_000138.4:c.185G>A , LRG_778t1:c.185G>A	NP_000129.3:p.Arg62His
NM_000138.5:c.185G>A MANE Select	NP_000129.3:p.Arg62His