Canonical Allele Identifier: CA392337244

Gene: FBN1

Linked Data

• ClinVar Variation Id: 439707
• ClinVar RCV Id: RCV000506354 ; RCV001046063 ; RCV001178175 ; RCV002481637 ; RCV001591155 ; RCV004003557
• dbSNP Id: rs1316593215
• gnomAD v2: 15-48730091-C-T
• gnomAD v3: 15-48437894-C-T
• gnomAD v4: 15-48437894-C-T
• MyVariant Identifiers: chr15:g.48730091C>T (hg19) ; chr15:g.48437894C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437894C>T , CM000677.2:g.48437894C>T	GRCh38
NC_000015.9:g.48730091C>T , CM000677.1:g.48730091C>T	GRCh37
NC_000015.8:g.46517383C>T	NCBI36
NG_008805.2:g.212895G>A , LRG_778:g.212895G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6187G>A	ENSP00000453958.2:p.Ala2063Thr
ENST00000674301.2:c.6187G>A	ENSP00000501333.2:p.Ala2063Thr
ENST00000316623.10:c.6187G>A MANE Select	ENSP00000325527.5:p.Ala2063Thr
ENST00000674301.1:c.1186G>A	ENSP00000501333.1:p.Ala396Thr
ENST00000316623.9:c.6187G>A	ENSP00000325527.5:p.Ala2063Thr
ENST00000537463.6:c.*1950G>A	ENSP00000440294.2:n.*1950G>A
ENST00000559133.5:c.1494G>A
ENST00000560820.1:n.307G>A
NM_000138.4:c.6187G>A , LRG_778t1:c.6187G>A	NP_000129.3:p.Ala2063Thr
NM_000138.5:c.6187G>A MANE Select	NP_000129.3:p.Ala2063Thr