Canonical Allele Identifier: CA392339502

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1366927
• ClinVar RCV Id: RCV001932367
• dbSNP Id: rs2141248001
• MyVariant Identifiers: chr15:g.48736744A>G (hg19) ; chr15:g.48444547A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48444547A>G , CM000677.2:g.48444547A>G	GRCh38
NC_000015.9:g.48736744A>G , CM000677.1:g.48736744A>G	GRCh37
NC_000015.8:g.46524036A>G	NCBI36
NG_008805.2:g.206242T>C , LRG_778:g.206242T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6031T>C	ENSP00000453958.2:p.Cys2011Arg
ENST00000674301.2:c.6031T>C	ENSP00000501333.2:p.Cys2011Arg
ENST00000684448.1:n.4705T>C
ENST00000316623.10:c.6031T>C MANE Select	ENSP00000325527.5:p.Cys2011Arg
ENST00000674301.1:c.1030T>C	ENSP00000501333.1:p.Cys344Arg
ENST00000316623.9:c.6031T>C	ENSP00000325527.5:p.Cys2011Arg
ENST00000537463.6:c.*1794T>C	ENSP00000440294.2:n.*1794T>C
ENST00000559133.5:c.1338T>C
ENST00000560820.1:n.151T>C
NM_000138.4:c.6031T>C , LRG_778t1:c.6031T>C	NP_000129.3:p.Cys2011Arg
NM_000138.5:c.6031T>C MANE Select	NP_000129.3:p.Cys2011Arg