Canonical Allele Identifier: CA392339972

Gene: FBN1

Linked Data

• ClinVar Variation Id: 923013
• ClinVar RCV Id: RCV001183398
• dbSNP Id: rs1252001573
• MyVariant Identifiers: chr15:g.48737599A>G (hg19) ; chr15:g.48445402A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445402A>G , CM000677.2:g.48445402A>G	GRCh38
NC_000015.9:g.48737599A>G , CM000677.1:g.48737599A>G	GRCh37
NC_000015.8:g.46524891A>G	NCBI36
NG_008805.2:g.205387T>C , LRG_778:g.205387T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5891T>C	ENSP00000453958.2:p.Val1964Ala
ENST00000674301.2:c.5891T>C	ENSP00000501333.2:p.Val1964Ala
ENST00000684448.1:n.4565T>C
ENST00000316623.10:c.5891T>C MANE Select	ENSP00000325527.5:p.Val1964Ala
ENST00000674301.1:c.890T>C	ENSP00000501333.1:p.Val297Ala
ENST00000316623.9:c.5891T>C	ENSP00000325527.5:p.Val1964Ala
ENST00000537463.6:c.*1654T>C	ENSP00000440294.2:n.*1654T>C
ENST00000559133.5:c.1198T>C
ENST00000560820.1:n.11T>C
NM_000138.4:c.5891T>C , LRG_778t1:c.5891T>C	NP_000129.3:p.Val1964Ala
NM_000138.5:c.5891T>C MANE Select	NP_000129.3:p.Val1964Ala