Canonical Allele Identifier: CA392340217

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1072043
• ClinVar RCV Id: RCV001384661
• dbSNP Id: rs2141249297
• MyVariant Identifiers: chr15:g.48737688A>C (hg19) ; chr15:g.48445491A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445491A>C , CM000677.2:g.48445491A>C	GRCh38
NC_000015.9:g.48737688A>C , CM000677.1:g.48737688A>C	GRCh37
NC_000015.8:g.46524980A>C	NCBI36
NG_008805.2:g.205298T>G , LRG_778:g.205298T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5802T>G	ENSP00000453958.2:p.Cys1934Trp
ENST00000674301.2:c.5802T>G	ENSP00000501333.2:p.Cys1934Trp
ENST00000684448.1:n.4476T>G
ENST00000316623.10:c.5802T>G MANE Select	ENSP00000325527.5:p.Cys1934Trp
ENST00000674301.1:c.801T>G	ENSP00000501333.1:p.Cys267Trp
ENST00000316623.9:c.5802T>G	ENSP00000325527.5:p.Cys1934Trp
ENST00000537463.6:c.*1565T>G	ENSP00000440294.2:n.*1565T>G
ENST00000559133.5:c.1109T>G
NM_000138.4:c.5802T>G , LRG_778t1:c.5802T>G	NP_000129.3:p.Cys1934Trp
NM_000138.5:c.5802T>G MANE Select	NP_000129.3:p.Cys1934Trp