Canonical Allele Identifier: CA392336293

Gene: FBN1

Linked Data

• ClinVar Variation Id: 432112
• ClinVar RCV Id: RCV000498938 ; RCV000702863 ; RCV001374838
• dbSNP Id: rs1555395191
• MyVariant Identifiers: chr15:g.48729167C>A (hg19) ; chr15:g.48436970C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48436970C>A , CM000677.2:g.48436970C>A	GRCh38
NC_000015.9:g.48729167C>A , CM000677.1:g.48729167C>A	GRCh37
NC_000015.8:g.46516459C>A	NCBI36
NG_008805.2:g.213819G>T , LRG_778:g.213819G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6487G>T	ENSP00000453958.2:p.Glu2163Ter
ENST00000674301.2:c.6487G>T	ENSP00000501333.2:p.Glu2163Ter
ENST00000682170.1:n.96G>T
ENST00000316623.10:c.6487G>T MANE Select	ENSP00000325527.5:p.Glu2163Ter
ENST00000674301.1:c.1486G>T	ENSP00000501333.1:p.Glu496Ter
ENST00000316623.9:c.6487G>T	ENSP00000325527.5:p.Glu2163Ter
ENST00000537463.6:c.*2250G>T	ENSP00000440294.2:n.*2250G>T
ENST00000559133.5:c.1794G>T
NM_000138.4:c.6487G>T , LRG_778t1:c.6487G>T	NP_000129.3:p.Glu2163Ter
NM_000138.5:c.6487G>T MANE Select	NP_000129.3:p.Glu2163Ter