Canonical Allele Identifier: CA392324380

Gene: FBN1

Linked Data

• ClinVar Variation Id: 457265
• ClinVar RCV Id: RCV000527653
• dbSNP Id: rs112907302
• MyVariant Identifiers: chr15:g.48712883C>A (hg19) ; chr15:g.48420686C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48420686C>A , CM000677.2:g.48420686C>A	GRCh38
NC_000015.9:g.48712883C>A , CM000677.1:g.48712883C>A	GRCh37
NC_000015.8:g.46500175C>A	NCBI36
NG_008805.2:g.230103G>T , LRG_778:g.230103G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*627+1G>T	ENSP00000453958.2:n.*627+1G>T
ENST00000674301.2:c.*1332+1G>T	ENSP00000501333.2:n.*1332+1G>T
ENST00000682170.1:n.2000+1G>T
ENST00000682767.1:n.1116+1G>T
ENST00000316623.10:c.7819+1G>T MANE Select	ENSP00000325527.5:n.7819+1G>T
ENST00000674301.1:c.2985+1G>T	ENSP00000501333.1:n.2985+1G>T
ENST00000316623.9:c.7819+1G>T	ENSP00000325527.5:n.7819+1G>T
ENST00000559133.5:c.3188+1G>T
NM_000138.4:c.7819+1G>T , LRG_778t1:c.7819+1G>T	NP_000129.3:n.7819+1G>T
NM_000138.5:c.7819+1G>T MANE Select	NP_000129.3:n.7819+1G>T