Canonical Allele Identifier: CA618009158

Gene: FBN1

Linked Data

• dbSNP Id: rs1286360138
• gnomAD v2: 15-48703146-T-C
• gnomAD v4: 15-48410949-T-C
• MyVariant Identifiers: chr15:g.48703146T>C (hg19) ; chr15:g.48410949T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410949T>C , CM000677.2:g.48410949T>C	GRCh38
NC_000015.9:g.48703146T>C , CM000677.1:g.48703146T>C	GRCh37
NC_000015.8:g.46490438T>C	NCBI36
NG_008805.2:g.239840A>G , LRG_778:g.239840A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*1465A>G	ENSP00000453958.2:n.*1465A>G
ENST00000682158.1:n.2038A>G
ENST00000682170.1:n.2838A>G
ENST00000682767.1:n.1954A>G
ENST00000316623.10:c.*41A>G MANE Select	ENSP00000325527.5:n.*41A>G
ENST00000316623.9:c.*41A>G	ENSP00000325527.5:n.*41A>G
ENST00000559133.5:c.4026A>G
NM_000138.4:c.*41A>G , LRG_778t1:c.*41A>G	NP_000129.3:n.*41A>G
NM_000138.5:c.*41A>G MANE Select	NP_000129.3:n.*41A>G