Canonical Allele Identifier: CA617832807

Gene: FBN1

Linked Data

• dbSNP Id: rs1365043662
• gnomAD v2: 15-48712837-T-C
• gnomAD v4: 15-48420640-T-C
• MyVariant Identifiers: chr15:g.48712837T>C (hg19) ; chr15:g.48420640T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48420640T>C , CM000677.2:g.48420640T>C	GRCh38
NC_000015.9:g.48712837T>C , CM000677.1:g.48712837T>C	GRCh37
NC_000015.8:g.46500129T>C	NCBI36
NG_008805.2:g.230149A>G , LRG_778:g.230149A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*627+47A>G	ENSP00000453958.2:n.*627+47A>G
ENST00000674301.2:c.*1332+47A>G	ENSP00000501333.2:n.*1332+47A>G
ENST00000682170.1:n.2000+47A>G
ENST00000682767.1:n.1116+47A>G
ENST00000316623.10:c.7819+47A>G MANE Select	ENSP00000325527.5:n.7819+47A>G
ENST00000674301.1:c.2985+47A>G	ENSP00000501333.1:n.2985+47A>G
ENST00000316623.9:c.7819+47A>G	ENSP00000325527.5:n.7819+47A>G
ENST00000559133.5:c.3188+47A>G
NM_000138.4:c.7819+47A>G , LRG_778t1:c.7819+47A>G	NP_000129.3:n.7819+47A>G
NM_000138.5:c.7819+47A>G MANE Select	NP_000129.3:n.7819+47A>G