Canonical Allele Identifier: CA392320093

Gene: FBN1

Linked Data

• ClinVar Variation Id: 920087
• ClinVar RCV Id: RCV001178659
• dbSNP Id: rs2042861973
• gnomAD v4: 15-48411351-C-T
• MyVariant Identifiers: chr15:g.48703548C>T (hg19) ; chr15:g.48411351C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411351C>T , CM000677.2:g.48411351C>T	GRCh38
NC_000015.9:g.48703548C>T , CM000677.1:g.48703548C>T	GRCh37
NC_000015.8:g.46490840C>T	NCBI36
NG_008805.2:g.239438G>A , LRG_778:g.239438G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*1063G>A	ENSP00000453958.2:n.*1063G>A
ENST00000674301.2:c.*1768G>A	ENSP00000501333.2:n.*1768G>A
ENST00000682158.1:n.1636G>A
ENST00000682170.1:n.2436G>A
ENST00000682767.1:n.1552G>A
ENST00000316623.10:c.8255G>A MANE Select	ENSP00000325527.5:p.Ser2752Asn
ENST00000674301.1:c.3421G>A	ENSP00000501333.1:n.3421G>A
ENST00000316623.9:c.8255G>A	ENSP00000325527.5:p.Ser2752Asn
ENST00000559133.5:c.3624G>A
ENST00000561429.1:n.510G>A
NM_000138.4:c.8255G>A , LRG_778t1:c.8255G>A	NP_000129.3:p.Ser2752Asn
NM_000138.5:c.8255G>A MANE Select	NP_000129.3:p.Ser2752Asn