Canonical Allele Identifier: CA618009163

Gene: FBN1

Linked Data

• dbSNP Id: rs1408070561
• gnomAD v2: 15-48703174-T-G
• gnomAD v4: 15-48410977-T-G
• MyVariant Identifiers: chr15:g.48703174T>G (hg19) ; chr15:g.48410977T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410977T>G , CM000677.2:g.48410977T>G	GRCh38
NC_000015.9:g.48703174T>G , CM000677.1:g.48703174T>G	GRCh37
NC_000015.8:g.46490466T>G	NCBI36
NG_008805.2:g.239812A>C , LRG_778:g.239812A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*1437A>C	ENSP00000453958.2:n.*1437A>C
ENST00000682158.1:n.2010A>C
ENST00000682170.1:n.2810A>C
ENST00000682767.1:n.1926A>C
ENST00000316623.10:c.*13A>C MANE Select	ENSP00000325527.5:n.*13A>C
ENST00000316623.9:c.*13A>C	ENSP00000325527.5:n.*13A>C
ENST00000559133.5:c.3998A>C
NM_000138.4:c.*13A>C , LRG_778t1:c.*13A>C	NP_000129.3:n.*13A>C
NM_000138.5:c.*13A>C MANE Select	NP_000129.3:n.*13A>C