Canonical Allele Identifier: CA392334706

Gene: FBN1

Linked Data

• ClinVar Variation Id: 617872
• ClinVar RCV Id: RCV000755194 ; RCV004527769
• dbSNP Id: rs1566895247
• COSMIC: COSM1373257
• MyVariant Identifiers: chr15:g.48726811C>T (hg19) ; chr15:g.48434614C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434614C>T , CM000677.2:g.48434614C>T	GRCh38
NC_000015.9:g.48726811C>T , CM000677.1:g.48726811C>T	GRCh37
NC_000015.8:g.46514103C>T	NCBI36
NG_008805.2:g.216175G>A , LRG_778:g.216175G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6596G>A	ENSP00000453958.2:p.Gly2199Asp
ENST00000674301.2:c.6596G>A	ENSP00000501333.2:p.Gly2199Asp
ENST00000682170.1:n.205G>A
ENST00000316623.10:c.6596G>A MANE Select	ENSP00000325527.5:p.Gly2199Asp
ENST00000674301.1:c.1595G>A	ENSP00000501333.1:p.Gly532Asp
ENST00000316623.9:c.6596G>A	ENSP00000325527.5:p.Gly2199Asp
ENST00000537463.6:c.*2359G>A	ENSP00000440294.2:n.*2359G>A
ENST00000559133.5:c.1903G>A
NM_000138.4:c.6596G>A , LRG_778t1:c.6596G>A	NP_000129.3:p.Gly2199Asp
NM_000138.5:c.6596G>A MANE Select	NP_000129.3:p.Gly2199Asp