Canonical Allele Identifier: CA645509189

Gene: FBN1

Linked Data

• ClinVar Variation Id: 439700
• ClinVar RCV Id: RCV000507664 ; RCV000663969 ; RCV003144298 ; RCV003766879
• dbSNP Id: rs1555394187
• MyVariant Identifiers: chr15:g.48713750C>T (hg19) ; chr15:g.48421553C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421553C>T , CM000677.2:g.48421553C>T	GRCh38
NC_000015.9:g.48713750C>T , CM000677.1:g.48713750C>T	GRCh37
NC_000015.8:g.46501042C>T	NCBI36
NG_008805.2:g.229236G>A , LRG_778:g.229236G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*507+5G>A	ENSP00000453958.2:n.*507+5G>A
ENST00000674301.2:c.*1212+5G>A	ENSP00000501333.2:n.*1212+5G>A
ENST00000682170.1:n.1880+5G>A
ENST00000682767.1:n.996+5G>A
ENST00000316623.10:c.7699+5G>A MANE Select	ENSP00000325527.5:n.7699+5G>A
ENST00000674301.1:c.2865+5G>A	ENSP00000501333.1:n.2865+5G>A
ENST00000316623.9:c.7699+5G>A	ENSP00000325527.5:n.7699+5G>A
ENST00000559133.5:c.3068+5G>A
NM_000138.4:c.7699+5G>A , LRG_778t1:c.7699+5G>A	NP_000129.3:n.7699+5G>A
NM_000138.5:c.7699+5G>A MANE Select	NP_000129.3:n.7699+5G>A