Canonical Allele Identifier: CA392340055

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1325429
• ClinVar RCV Id: RCV002246041 ; RCV002359255 ; RCV003772160
• dbSNP Id: rs2141249218
• MyVariant Identifiers: chr15:g.48737635C>A (hg19) ; chr15:g.48445438C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445438C>A , CM000677.2:g.48445438C>A	GRCh38
NC_000015.9:g.48737635C>A , CM000677.1:g.48737635C>A	GRCh37
NC_000015.8:g.46524927C>A	NCBI36
NG_008805.2:g.205351G>T , LRG_778:g.205351G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5855G>T	ENSP00000453958.2:p.Gly1952Val
ENST00000674301.2:c.5855G>T	ENSP00000501333.2:p.Gly1952Val
ENST00000684448.1:n.4529G>T
ENST00000316623.10:c.5855G>T MANE Select	ENSP00000325527.5:p.Gly1952Val
ENST00000674301.1:c.854G>T	ENSP00000501333.1:p.Gly285Val
ENST00000316623.9:c.5855G>T	ENSP00000325527.5:p.Gly1952Val
ENST00000537463.6:c.*1618G>T	ENSP00000440294.2:n.*1618G>T
ENST00000559133.5:c.1162G>T
NM_000138.4:c.5855G>T , LRG_778t1:c.5855G>T	NP_000129.3:p.Gly1952Val
NM_000138.5:c.5855G>T MANE Select	NP_000129.3:p.Gly1952Val