Canonical Allele Identifier: CA392322652

Gene: FBN1

Linked Data

• ClinVar Variation Id: 857658
• ClinVar RCV Id: RCV001063379
• dbSNP Id: rs1555393833
• MyVariant Identifiers: chr15:g.48707770A>G (hg19) ; chr15:g.48415573A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415573A>G , CM000677.2:g.48415573A>G	GRCh38
NC_000015.9:g.48707770A>G , CM000677.1:g.48707770A>G	GRCh37
NC_000015.8:g.46495062A>G	NCBI36
NG_008805.2:g.235216T>C , LRG_778:g.235216T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*822T>C	ENSP00000453958.2:n.*822T>C
ENST00000674301.2:c.*1527T>C	ENSP00000501333.2:n.*1527T>C
ENST00000682158.1:n.1395T>C
ENST00000682170.1:n.2195T>C
ENST00000682767.1:n.1311T>C
ENST00000316623.10:c.8014T>C MANE Select	ENSP00000325527.5:p.Cys2672Arg
ENST00000674301.1:c.3180T>C	ENSP00000501333.1:n.3180T>C
ENST00000316623.9:c.8014T>C	ENSP00000325527.5:p.Cys2672Arg
ENST00000559133.5:c.3383T>C
ENST00000561429.1:n.269T>C
NM_000138.4:c.8014T>C , LRG_778t1:c.8014T>C	NP_000129.3:p.Cys2672Arg
NM_000138.5:c.8014T>C MANE Select	NP_000129.3:p.Cys2672Arg