Canonical Allele Identifier: CA392329714

Gene: FBN1

Linked Data

• ClinVar Variation Id: 457257
• ClinVar RCV Id: RCV000530226 ; RCV000663930
• dbSNP Id: rs1555394567
• gnomAD v4: 15-48427659-C-T
• MyVariant Identifiers: chr15:g.48719856C>T (hg19) ; chr15:g.48427659C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48427659C>T , CM000677.2:g.48427659C>T	GRCh38
NC_000015.9:g.48719856C>T , CM000677.1:g.48719856C>T	GRCh37
NC_000015.8:g.46507148C>T	NCBI36
NG_008805.2:g.223130G>A , LRG_778:g.223130G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.7174G>A	ENSP00000453958.2:p.Gly2392Arg
ENST00000674301.2:c.*625G>A	ENSP00000501333.2:n.*625G>A
ENST00000682170.1:n.1293G>A
ENST00000682767.1:n.409G>A
ENST00000316623.10:c.7112G>A MANE Select	ENSP00000325527.5:p.Trp2371Ter
ENST00000674301.1:c.2278G>A	ENSP00000501333.1:n.2278G>A
ENST00000316623.9:c.7112G>A	ENSP00000325527.5:p.Trp2371Ter
ENST00000559133.5:c.2481G>A
NM_000138.4:c.7112G>A , LRG_778t1:c.7112G>A	NP_000129.3:p.Trp2371Ter
NM_000138.5:c.7112G>A MANE Select	NP_000129.3:p.Trp2371Ter