Canonical Allele Identifier: CA046227

Gene: FBN1

Linked Data

• ClinVar Variation Id: 418630
• ClinVar RCV Id: RCV000485013 ; RCV000803376 ; RCV001179088 ; RCV002506159 ; RCV003226302 ; RCV004002262
• dbSNP Id: rs746073643
• ExAC: 15:48797302 C / T
• gnomAD v2: 15-48797302-C-T
• gnomAD v3: 15-48505105-C-T
• gnomAD v4: 15-48505105-C-T
• MyVariant Identifiers: chr15:g.48797302C>T (hg19) ; chr15:g.48505105C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48505105C>T , CM000677.2:g.48505105C>T	GRCh38
NC_000015.9:g.48797302C>T , CM000677.1:g.48797302C>T	GRCh37
NC_000015.8:g.46584594C>T	NCBI36
NG_008805.2:g.145684G>A , LRG_778:g.145684G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1880G>A	ENSP00000453958.2:p.Arg627His
ENST00000674301.2:c.1880G>A	ENSP00000501333.2:p.Arg627His
ENST00000684448.1:n.554G>A
ENST00000316623.10:c.1880G>A MANE Select	ENSP00000325527.5:p.Arg627His
ENST00000316623.9:c.1880G>A	ENSP00000325527.5:p.Arg627His
ENST00000537463.6:c.637-30455G>A	ENSP00000440294.2:n.637-30455G>A
NM_000138.4:c.1880G>A , LRG_778t1:c.1880G>A	NP_000129.3:p.Arg627His
NM_000138.5:c.1880G>A MANE Select	NP_000129.3:p.Arg627His