Canonical Allele Identifier: CA016435

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200083
• ClinVar RCV Id: RCV000181566 ; RCV000820661
• dbSNP Id: rs794728249
• MyVariant Identifiers: chr15:g.48729236C>T (hg19) ; chr15:g.48437039C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437039C>T , CM000677.2:g.48437039C>T	GRCh38
NC_000015.9:g.48729236C>T , CM000677.1:g.48729236C>T	GRCh37
NC_000015.8:g.46516528C>T	NCBI36
NG_008805.2:g.213750G>A , LRG_778:g.213750G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6418G>A	ENSP00000453958.2:p.Gly2140Arg
ENST00000674301.2:c.6418G>A	ENSP00000501333.2:p.Gly2140Arg
ENST00000682170.1:n.27G>A
ENST00000316623.10:c.6418G>A MANE Select	ENSP00000325527.5:p.Gly2140Arg
ENST00000674301.1:c.1417G>A	ENSP00000501333.1:p.Gly473Arg
ENST00000316623.9:c.6418G>A	ENSP00000325527.5:p.Gly2140Arg
ENST00000537463.6:c.*2181G>A	ENSP00000440294.2:n.*2181G>A
ENST00000559133.5:c.1725G>A
NM_000138.4:c.6418G>A , LRG_778t1:c.6418G>A	NP_000129.3:p.Gly2140Arg
NM_000138.5:c.6418G>A MANE Select	NP_000129.3:p.Gly2140Arg