Canonical Allele Identifier: CA392340288

Gene: FBN1

Linked Data

• ClinVar Variation Id: 915612
• ClinVar RCV Id: RCV001170535 ; RCV002558711
• dbSNP Id: rs2043152080
• MyVariant Identifiers: chr15:g.48737702C>T (hg19) ; chr15:g.48445505C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445505C>T , CM000677.2:g.48445505C>T	GRCh38
NC_000015.9:g.48737702C>T , CM000677.1:g.48737702C>T	GRCh37
NC_000015.8:g.46524994C>T	NCBI36
NG_008805.2:g.205284G>A , LRG_778:g.205284G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5789-1G>A	ENSP00000453958.2:n.5789-1G>A
ENST00000674301.2:c.5789-1G>A	ENSP00000501333.2:n.5789-1G>A
ENST00000684448.1:n.4463-1G>A
ENST00000316623.10:c.5789-1G>A MANE Select	ENSP00000325527.5:n.5789-1G>A
ENST00000674301.1:c.788-1G>A	ENSP00000501333.1:n.788-1G>A
ENST00000316623.9:c.5789-1G>A	ENSP00000325527.5:n.5789-1G>A
ENST00000537463.6:c.*1552-1G>A	ENSP00000440294.2:n.*1552-1G>A
ENST00000559133.5:c.1096-1G>A
NM_000138.4:c.5789-1G>A , LRG_778t1:c.5789-1G>A	NP_000129.3:n.5789-1G>A
NM_000138.5:c.5789-1G>A MANE Select	NP_000129.3:n.5789-1G>A