Canonical Allele Identifier: CA392339640

Gene: FBN1

Linked Data

• ClinVar Variation Id: 618121
• ClinVar RCV Id: RCV000756144 ; RCV001805836 ; RCV002533119 ; RCV003999885
• dbSNP Id: rs1566898093
• gnomAD v4: 15-48444573-G-A
• MyVariant Identifiers: chr15:g.48736770G>A (hg19) ; chr15:g.48444573G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48444573G>A , CM000677.2:g.48444573G>A	GRCh38
NC_000015.9:g.48736770G>A , CM000677.1:g.48736770G>A	GRCh37
NC_000015.8:g.46524062G>A	NCBI36
NG_008805.2:g.206216C>T , LRG_778:g.206216C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6005C>T	ENSP00000453958.2:p.Pro2002Leu
ENST00000674301.2:c.6005C>T	ENSP00000501333.2:p.Pro2002Leu
ENST00000684448.1:n.4679C>T
ENST00000316623.10:c.6005C>T MANE Select	ENSP00000325527.5:p.Pro2002Leu
ENST00000674301.1:c.1004C>T	ENSP00000501333.1:p.Pro335Leu
ENST00000316623.9:c.6005C>T	ENSP00000325527.5:p.Pro2002Leu
ENST00000537463.6:c.*1768C>T	ENSP00000440294.2:n.*1768C>T
ENST00000559133.5:c.1312C>T
ENST00000560820.1:n.125C>T
NM_000138.4:c.6005C>T , LRG_778t1:c.6005C>T	NP_000129.3:p.Pro2002Leu
NM_000138.5:c.6005C>T MANE Select	NP_000129.3:p.Pro2002Leu