Canonical Allele Identifier: CA10587785

Gene: FBN1

Linked Data

• ClinVar Variation Id: 263433
• ClinVar RCV Id: RCV000247812 ; RCV000664013
• dbSNP Id: rs187553035
• MyVariant Identifiers: chr15:g.48704843C>A (hg19) ; chr15:g.48412646C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412646C>A , CM000677.2:g.48412646C>A	GRCh38
NC_000015.9:g.48704843C>A , CM000677.1:g.48704843C>A	GRCh37
NC_000015.8:g.46492135C>A	NCBI36
NG_008805.2:g.238143G>T , LRG_778:g.238143G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*957G>T	ENSP00000453958.2:n.*957G>T
ENST00000674301.2:c.*1662G>T	ENSP00000501333.2:n.*1662G>T
ENST00000682158.1:n.1530G>T
ENST00000682170.1:n.2330G>T
ENST00000682767.1:n.1446G>T
ENST00000316623.10:c.8149G>T MANE Select	ENSP00000325527.5:p.Glu2717Ter
ENST00000674301.1:c.3315G>T	ENSP00000501333.1:n.3315G>T
ENST00000316623.9:c.8149G>T	ENSP00000325527.5:p.Glu2717Ter
ENST00000559133.5:c.3518G>T
ENST00000561429.1:n.404G>T
NM_000138.4:c.8149G>T , LRG_778t1:c.8149G>T	NP_000129.3:p.Glu2717Ter
NM_000138.5:c.8149G>T MANE Select	NP_000129.3:p.Glu2717Ter