Canonical Allele Identifier: CA392318541

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1171424
• ClinVar RCV Id: RCV001524558
• dbSNP Id: rs2141209534
• MyVariant Identifiers: chr15:g.48703249C>T (hg19) ; chr15:g.48411052C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411052C>T , CM000677.2:g.48411052C>T	GRCh38
NC_000015.9:g.48703249C>T , CM000677.1:g.48703249C>T	GRCh37
NC_000015.8:g.46490541C>T	NCBI36
NG_008805.2:g.239737G>A , LRG_778:g.239737G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*1362G>A	ENSP00000453958.2:n.*1362G>A
ENST00000682158.1:n.1935G>A
ENST00000682170.1:n.2735G>A
ENST00000682767.1:n.1851G>A
ENST00000316623.10:c.8554G>A MANE Select	ENSP00000325527.5:p.Asp2852Asn
ENST00000316623.9:c.8554G>A	ENSP00000325527.5:p.Asp2852Asn
ENST00000559133.5:c.3923G>A
NM_000138.4:c.8554G>A , LRG_778t1:c.8554G>A	NP_000129.3:p.Asp2852Asn
NM_000138.5:c.8554G>A MANE Select	NP_000129.3:p.Asp2852Asn