Canonical Allele Identifier: CA017097

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200106
• ClinVar RCV Id: RCV000181593 ; RCV001328430 ; RCV001380006
• dbSNP Id: rs794728266
• MyVariant Identifiers: chr15:g.48718062C>T (hg19) ; chr15:g.48425865C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425865C>T , CM000677.2:g.48425865C>T	GRCh38
NC_000015.9:g.48718062C>T , CM000677.1:g.48718062C>T	GRCh37
NC_000015.8:g.46505354C>T	NCBI36
NG_008805.2:g.224924G>A , LRG_778:g.224924G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*13-1G>A	ENSP00000453958.2:n.*13-1G>A
ENST00000674301.2:c.*718-1G>A	ENSP00000501333.2:n.*718-1G>A
ENST00000682170.1:n.1386-1G>A
ENST00000682767.1:n.502-1G>A
ENST00000316623.10:c.7205-1G>A MANE Select	ENSP00000325527.5:n.7205-1G>A
ENST00000674301.1:c.2371-1G>A	ENSP00000501333.1:n.2371-1G>A
ENST00000316623.9:c.7205-1G>A	ENSP00000325527.5:n.7205-1G>A
ENST00000559133.5:c.2574-1G>A
NM_000138.4:c.7205-1G>A , LRG_778t1:c.7205-1G>A	NP_000129.3:n.7205-1G>A
NM_000138.5:c.7205-1G>A MANE Select	NP_000129.3:n.7205-1G>A