Canonical Allele Identifier: CA392340104

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549310
• ClinVar RCV Id: RCV000663824
• dbSNP Id: rs1555395760
• MyVariant Identifiers: chr15:g.48737656C>T (hg19) ; chr15:g.48445459C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445459C>T , CM000677.2:g.48445459C>T	GRCh38
NC_000015.9:g.48737656C>T , CM000677.1:g.48737656C>T	GRCh37
NC_000015.8:g.46524948C>T	NCBI36
NG_008805.2:g.205330G>A , LRG_778:g.205330G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5834G>A	ENSP00000453958.2:p.Gly1945Asp
ENST00000674301.2:c.5834G>A	ENSP00000501333.2:p.Gly1945Asp
ENST00000684448.1:n.4508G>A
ENST00000316623.10:c.5834G>A MANE Select	ENSP00000325527.5:p.Gly1945Asp
ENST00000674301.1:c.833G>A	ENSP00000501333.1:p.Gly278Asp
ENST00000316623.9:c.5834G>A	ENSP00000325527.5:p.Gly1945Asp
ENST00000537463.6:c.*1597G>A	ENSP00000440294.2:n.*1597G>A
ENST00000559133.5:c.1141G>A
NM_000138.4:c.5834G>A , LRG_778t1:c.5834G>A	NP_000129.3:p.Gly1945Asp
NM_000138.5:c.5834G>A MANE Select	NP_000129.3:p.Gly1945Asp