Canonical Allele Identifier: CA269518588

Gene: FBN1

Linked Data

• dbSNP Id: rs756841264
• gnomAD v2: 15-48703178-G-A
• gnomAD v3: 15-48410981-G-A
• gnomAD v4: 15-48410981-G-A
• MyVariant Identifiers: chr15:g.48703178G>A (hg19) ; chr15:g.48410981G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410981G>A , CM000677.2:g.48410981G>A	GRCh38
NC_000015.9:g.48703178G>A , CM000677.1:g.48703178G>A	GRCh37
NC_000015.8:g.46490470G>A	NCBI36
NG_008805.2:g.239808C>T , LRG_778:g.239808C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*1433C>T	ENSP00000453958.2:n.*1433C>T
ENST00000682158.1:n.2006C>T
ENST00000682170.1:n.2806C>T
ENST00000682767.1:n.1922C>T
ENST00000316623.10:c.*9C>T MANE Select	ENSP00000325527.5:n.*9C>T
ENST00000316623.9:c.*9C>T	ENSP00000325527.5:n.*9C>T
ENST00000559133.5:c.3994C>T
NM_000138.4:c.*9C>T , LRG_778t1:c.*9C>T	NP_000129.3:n.*9C>T
NM_000138.5:c.*9C>T MANE Select	NP_000129.3:n.*9C>T