Canonical Allele Identifier: CA392340201

Gene: FBN1

Linked Data

• gnomAD v4: 15-48445486-C-T
• COSMIC: COSM4969737
• MyVariant Identifiers: chr15:g.48737683C>T (hg19) ; chr15:g.48445486C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445486C>T , CM000677.2:g.48445486C>T	GRCh38
NC_000015.9:g.48737683C>T , CM000677.1:g.48737683C>T	GRCh37
NC_000015.8:g.46524975C>T	NCBI36
NG_008805.2:g.205303G>A , LRG_778:g.205303G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5807G>A	ENSP00000453958.2:p.Ser1936Asn
ENST00000674301.2:c.5807G>A	ENSP00000501333.2:p.Ser1936Asn
ENST00000684448.1:n.4481G>A
ENST00000316623.10:c.5807G>A MANE Select	ENSP00000325527.5:p.Ser1936Asn
ENST00000674301.1:c.806G>A	ENSP00000501333.1:p.Ser269Asn
ENST00000316623.9:c.5807G>A	ENSP00000325527.5:p.Ser1936Asn
ENST00000537463.6:c.*1570G>A	ENSP00000440294.2:n.*1570G>A
ENST00000559133.5:c.1114G>A
NM_000138.4:c.5807G>A , LRG_778t1:c.5807G>A	NP_000129.3:p.Ser1936Asn
NM_000138.5:c.5807G>A MANE Select	NP_000129.3:p.Ser1936Asn