Canonical Allele Identifier: CA048525

Gene: FBN1

Linked Data

• ClinVar Variation Id: 426218
• ClinVar RCV Id: RCV001729614 ; RCV001851306
• dbSNP Id: rs756111066
• ExAC: 15:48786416 C / T
• gnomAD v2: 15-48786416-C-T
• gnomAD v3: 15-48494219-C-T
• gnomAD v4: 15-48494219-C-T
• MyVariant Identifiers: chr15:g.48786416C>T (hg19) ; chr15:g.48494219C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48494219C>T , CM000677.2:g.48494219C>T	GRCh38
NC_000015.9:g.48786416C>T , CM000677.1:g.48786416C>T	GRCh37
NC_000015.8:g.46573708C>T	NCBI36
NG_008805.2:g.156570G>A , LRG_778:g.156570G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.2713G>A	ENSP00000453958.2:p.Gly905Arg
ENST00000674301.2:c.2713G>A	ENSP00000501333.2:p.Gly905Arg
ENST00000684448.1:n.1387G>A
ENST00000316623.10:c.2713G>A MANE Select	ENSP00000325527.5:p.Gly905Arg
ENST00000316623.9:c.2713G>A	ENSP00000325527.5:p.Gly905Arg
ENST00000537463.6:c.637-19569G>A	ENSP00000440294.2:n.637-19569G>A
NM_000138.4:c.2713G>A , LRG_778t1:c.2713G>A	NP_000129.3:p.Gly905Arg
NM_000138.5:c.2713G>A MANE Select	NP_000129.3:p.Gly905Arg