Canonical Allele Identifier: CA392354863

Gene: FBN1

Linked Data

• ClinVar Variation Id: 495608
• ClinVar RCV Id: RCV000589527 ; RCV002289885
• dbSNP Id: rs1555397424
• MyVariant Identifiers: chr15:g.48762954C>T (hg19) ; chr15:g.48470757C>T (hg38)
• PubMed: PMID:21907952

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48470757C>T , CM000677.2:g.48470757C>T	GRCh38
NC_000015.9:g.48762954C>T , CM000677.1:g.48762954C>T	GRCh37
NC_000015.8:g.46550246C>T	NCBI36
NG_008805.2:g.180032G>A , LRG_778:g.180032G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4337-1G>A	ENSP00000453958.2:n.4337-1G>A
ENST00000674301.2:c.4337-1G>A	ENSP00000501333.2:n.4337-1G>A
ENST00000683268.1:n.304-1G>A
ENST00000684448.1:n.3011-1G>A
ENST00000316623.10:c.4337-1G>A MANE Select	ENSP00000325527.5:n.4337-1G>A
ENST00000316623.9:c.4337-1G>A	ENSP00000325527.5:n.4337-1G>A
ENST00000537463.6:c.*100-1G>A	ENSP00000440294.2:n.*100-1G>A
NM_000138.4:c.4337-1G>A , LRG_778t1:c.4337-1G>A	NP_000129.3:n.4337-1G>A
NM_000138.5:c.4337-1G>A MANE Select	NP_000129.3:n.4337-1G>A