Canonical Allele Identifier: CA10587802

Gene: FBN1

Linked Data

• ClinVar Variation Id: 263849
• ClinVar RCV Id: RCV000631910 ; RCV000659572 ; RCV002310863
• dbSNP Id: rs886038949
• MyVariant Identifiers: chr15:g.48720656C>T (hg19) ; chr15:g.48428459C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428459C>T , CM000677.2:g.48428459C>T	GRCh38
NC_000015.9:g.48720656C>T , CM000677.1:g.48720656C>T	GRCh37
NC_000015.8:g.46507948C>T	NCBI36
NG_008805.2:g.222330G>A , LRG_778:g.222330G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6884G>A	ENSP00000453958.2:p.Cys2295Tyr
ENST00000674301.2:c.*335G>A	ENSP00000501333.2:n.*335G>A
ENST00000682170.1:n.493G>A
ENST00000682767.1:n.119G>A
ENST00000316623.10:c.6884G>A MANE Select	ENSP00000325527.5:p.Cys2295Tyr
ENST00000674301.1:c.1988G>A	ENSP00000501333.1:n.1988G>A
ENST00000316623.9:c.6884G>A	ENSP00000325527.5:p.Cys2295Tyr
ENST00000559133.5:c.2191G>A
ENST00000560720.1:n.171G>A
NM_000138.4:c.6884G>A , LRG_778t1:c.6884G>A	NP_000129.3:p.Cys2295Tyr
NM_000138.5:c.6884G>A MANE Select	NP_000129.3:p.Cys2295Tyr