Canonical Allele Identifier: CA392322650

Gene: FBN1

Linked Data

• ClinVar Variation Id: 519693
• ClinVar RCV Id: RCV000632014 ; RCV001535542 ; RCV002314297
• dbSNP Id: rs1555393833
• MyVariant Identifiers: chr15:g.48707770A>C (hg19) ; chr15:g.48415573A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*822T>G	ENSP00000453958.2:n.*822T>G
ENST00000674301.2:c.*1527T>G	ENSP00000501333.2:n.*1527T>G
ENST00000682158.1:n.1395T>G
ENST00000682170.1:n.2195T>G
ENST00000682767.1:n.1311T>G
ENST00000316623.10:c.8014T>G MANE Select	ENSP00000325527.5:p.Cys2672Gly
ENST00000674301.1:c.3180T>G	ENSP00000501333.1:n.3180T>G
ENST00000316623.9:c.8014T>G	ENSP00000325527.5:p.Cys2672Gly
ENST00000559133.5:c.3383T>G
ENST00000561429.1:n.269T>G
NM_000138.4:c.8014T>G , LRG_778t1:c.8014T>G	NP_000129.3:p.Cys2672Gly
NM_000138.5:c.8014T>G MANE Select	NP_000129.3:p.Cys2672Gly