Canonical Allele Identifier: CA392319194

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2930190
• ClinVar RCV Id: RCV003787548
• MyVariant Identifiers: chr15:g.48703401T>C (hg19) ; chr15:g.48411204T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411204T>C , CM000677.2:g.48411204T>C	GRCh38
NC_000015.9:g.48703401T>C , CM000677.1:g.48703401T>C	GRCh37
NC_000015.8:g.46490693T>C	NCBI36
NG_008805.2:g.239585A>G , LRG_778:g.239585A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1210A>G	ENSP00000453958.2:n.*1210A>G
ENST00000674301.2:c.*1915A>G	ENSP00000501333.2:n.*1915A>G
ENST00000682158.1:n.1783A>G
ENST00000682170.1:n.2583A>G
ENST00000682767.1:n.1699A>G
ENST00000316623.10:c.8402A>G MANE Select	ENSP00000325527.5:p.Asp2801Gly
ENST00000674301.1:c.3568A>G	ENSP00000501333.1:n.3568A>G
ENST00000316623.9:c.8402A>G	ENSP00000325527.5:p.Asp2801Gly
ENST00000559133.5:c.3771A>G
ENST00000561429.1:n.657A>G
NM_000138.4:c.8402A>G , LRG_778t1:c.8402A>G	NP_000129.3:p.Asp2801Gly
NM_000138.5:c.8402A>G MANE Select	NP_000129.3:p.Asp2801Gly