Canonical Allele Identifier: CA392340896

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1373971
• ClinVar RCV Id: RCV001877586
• dbSNP Id: rs2141323230
• MyVariant Identifiers: chr15:g.48802241C>T (hg19) ; chr15:g.48510044C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48510044C>T , CM000677.2:g.48510044C>T	GRCh38
NC_000015.9:g.48802241C>T , CM000677.1:g.48802241C>T	GRCh37
NC_000015.8:g.46589533C>T	NCBI36
NG_008805.2:g.140745G>A , LRG_778:g.140745G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1714G>A	ENSP00000453958.2:p.Asp572Asn
ENST00000674301.2:c.1714G>A	ENSP00000501333.2:p.Asp572Asn
ENST00000684448.1:n.388G>A
ENST00000316623.10:c.1714G>A MANE Select	ENSP00000325527.5:p.Asp572Asn
ENST00000316623.9:c.1714G>A	ENSP00000325527.5:p.Asp572Asn
ENST00000537463.6:c.636+27667G>A	ENSP00000440294.2:n.636+27667G>A
NM_000138.4:c.1714G>A , LRG_778t1:c.1714G>A	NP_000129.3:p.Asp572Asn
NM_000138.5:c.1714G>A MANE Select	NP_000129.3:p.Asp572Asn