Canonical Allele Identifier: CA10587783

Gene: FBN1

Linked Data

• ClinVar Variation Id: 263414
• ClinVar RCV Id: RCV000253392 ; RCV000631975 ; RCV000664028
• dbSNP Id: rs886038795
• MyVariant Identifiers: chr15:g.48703315G>A (hg19) ; chr15:g.48411118G>A (hg38)
• ERepo: CA10587783/MONDO:0007947/022

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411118G>A , CM000677.2:g.48411118G>A	GRCh38
NC_000015.9:g.48703315G>A , CM000677.1:g.48703315G>A	GRCh37
NC_000015.8:g.46490607G>A	NCBI36
NG_008805.2:g.239671C>T , LRG_778:g.239671C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1296C>T	ENSP00000453958.2:n.*1296C>T
ENST00000674301.2:c.*2001C>T	ENSP00000501333.2:n.*2001C>T
ENST00000682158.1:n.1869C>T
ENST00000682170.1:n.2669C>T
ENST00000682767.1:n.1785C>T
ENST00000316623.10:c.8488C>T MANE Select	ENSP00000325527.5:p.Gln2830Ter
ENST00000674301.1:c.3654C>T	ENSP00000501333.1:n.3654C>T
ENST00000316623.9:c.8488C>T	ENSP00000325527.5:p.Gln2830Ter
ENST00000559133.5:c.3857C>T
NM_000138.4:c.8488C>T , LRG_778t1:c.8488C>T	NP_000129.3:p.Gln2830Ter
NM_000138.5:c.8488C>T MANE Select	NP_000129.3:p.Gln2830Ter