Canonical Allele Identifier: CA392319937

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2502816
• ClinVar RCV Id: RCV003229489 ; RCV004009683
• dbSNP Id: rs1242744120
• MyVariant Identifiers: chr15:g.48703522T>C (hg19) ; chr15:g.48411325T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411325T>C , CM000677.2:g.48411325T>C	GRCh38
NC_000015.9:g.48703522T>C , CM000677.1:g.48703522T>C	GRCh37
NC_000015.8:g.46490814T>C	NCBI36
NG_008805.2:g.239464A>G , LRG_778:g.239464A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1089A>G	ENSP00000453958.2:n.*1089A>G
ENST00000674301.2:c.*1794A>G	ENSP00000501333.2:n.*1794A>G
ENST00000682158.1:n.1662A>G
ENST00000682170.1:n.2462A>G
ENST00000682767.1:n.1578A>G
ENST00000316623.10:c.8281A>G MANE Select	ENSP00000325527.5:p.Thr2761Ala
ENST00000674301.1:c.3447A>G	ENSP00000501333.1:n.3447A>G
ENST00000316623.9:c.8281A>G	ENSP00000325527.5:p.Thr2761Ala
ENST00000559133.5:c.3650A>G
ENST00000561429.1:n.536A>G
NM_000138.4:c.8281A>G , LRG_778t1:c.8281A>G	NP_000129.3:p.Thr2761Ala
NM_000138.5:c.8281A>G MANE Select	NP_000129.3:p.Thr2761Ala