Canonical Allele Identifier: CA017230

Gene: FBN1

Linked Data

• ClinVar Variation Id: 199953
• ClinVar RCV Id: RCV000181410 ; RCV000795593 ; RCV000989312
• dbSNP Id: rs794728160
• MyVariant Identifiers: chr15:g.48714220C>T (hg19) ; chr15:g.48422023C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422023C>T , CM000677.2:g.48422023C>T	GRCh38
NC_000015.9:g.48714220C>T , CM000677.1:g.48714220C>T	GRCh37
NC_000015.8:g.46501512C>T	NCBI36
NG_008805.2:g.228766G>A , LRG_778:g.228766G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*307G>A	ENSP00000453958.2:n.*307G>A
ENST00000674301.2:c.*1012G>A	ENSP00000501333.2:n.*1012G>A
ENST00000682170.1:n.1680G>A
ENST00000682767.1:n.796G>A
ENST00000316623.10:c.7499G>A MANE Select	ENSP00000325527.5:p.Cys2500Tyr
ENST00000674301.1:c.2665G>A	ENSP00000501333.1:n.2665G>A
ENST00000316623.9:c.7499G>A	ENSP00000325527.5:p.Cys2500Tyr
ENST00000559133.5:c.2868G>A
NM_000138.4:c.7499G>A , LRG_778t1:c.7499G>A	NP_000129.3:p.Cys2500Tyr
NM_000138.5:c.7499G>A MANE Select	NP_000129.3:p.Cys2500Tyr