Canonical Allele Identifier: CA16606691

Gene: FBN1

Linked Data

• ClinVar Variation Id: 379655
• ClinVar RCV Id: RCV000424583 ; RCV002524849
• dbSNP Id: rs1057520679
• MyVariant Identifiers: chr15:g.48722945C>T (hg19) ; chr15:g.48430748C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430748C>T , CM000677.2:g.48430748C>T	GRCh38
NC_000015.9:g.48722945C>T , CM000677.1:g.48722945C>T	GRCh37
NC_000015.8:g.46510237C>T	NCBI36
NG_008805.2:g.220041G>A , LRG_778:g.220041G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6794G>A	ENSP00000453958.2:p.Cys2265Tyr
ENST00000674301.2:c.*245G>A	ENSP00000501333.2:n.*245G>A
ENST00000682170.1:n.403G>A
ENST00000316623.10:c.6794G>A MANE Select	ENSP00000325527.5:p.Cys2265Tyr
ENST00000674301.1:c.1898G>A	ENSP00000501333.1:n.1898G>A
ENST00000316623.9:c.6794G>A	ENSP00000325527.5:p.Cys2265Tyr
ENST00000559133.5:c.2101G>A
ENST00000560720.1:n.81G>A
NM_000138.4:c.6794G>A , LRG_778t1:c.6794G>A	NP_000129.3:p.Cys2265Tyr
NM_000138.5:c.6794G>A MANE Select	NP_000129.3:p.Cys2265Tyr