Canonical Allele Identifier: CA392317763

Gene: FBN1

Linked Data

• gnomAD v4: 15-48472605-G-T
• MyVariant Identifiers: chr15:g.48764802G>T (hg19) ; chr15:g.48472605G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472605G>T , CM000677.2:g.48472605G>T	GRCh38
NC_000015.9:g.48764802G>T , CM000677.1:g.48764802G>T	GRCh37
NC_000015.8:g.46552094G>T	NCBI36
NG_008805.2:g.178184C>A , LRG_778:g.178184C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4282C>A	ENSP00000453958.2:p.Arg1428Ser
ENST00000674301.2:c.4282C>A	ENSP00000501333.2:p.Arg1428Ser
ENST00000683268.1:n.249C>A
ENST00000684448.1:n.2956C>A
ENST00000316623.10:c.4282C>A MANE Select	ENSP00000325527.5:p.Arg1428Ser
ENST00000316623.9:c.4282C>A	ENSP00000325527.5:p.Arg1428Ser
ENST00000537463.6:c.*45C>A	ENSP00000440294.2:n.*45C>A
NM_000138.4:c.4282C>A , LRG_778t1:c.4282C>A	NP_000129.3:p.Arg1428Ser
NM_000138.5:c.4282C>A MANE Select	NP_000129.3:p.Arg1428Ser