Canonical Allele Identifier: CA392329026

Gene: FBN1

Linked Data

• ClinVar Variation Id: 638157
• ClinVar RCV Id: RCV000790617
• dbSNP Id: rs1057524757
• MyVariant Identifiers: chr15:g.48719764C>T (hg19) ; chr15:g.48427567C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48427567C>T , CM000677.2:g.48427567C>T	GRCh38
NC_000015.9:g.48719764C>T , CM000677.1:g.48719764C>T	GRCh37
NC_000015.8:g.46507056C>T	NCBI36
NG_008805.2:g.223222G>A , LRG_778:g.223222G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*12G>A	ENSP00000453958.2:n.*12G>A
ENST00000674301.2:c.*717G>A	ENSP00000501333.2:n.*717G>A
ENST00000682170.1:n.1385G>A
ENST00000682767.1:n.501G>A
ENST00000316623.10:c.7204G>A MANE Select	ENSP00000325527.5:p.Asp2402Asn
ENST00000674301.1:c.2370G>A	ENSP00000501333.1:n.2370G>A
ENST00000316623.9:c.7204G>A	ENSP00000325527.5:p.Asp2402Asn
ENST00000559133.5:c.2573G>A
NM_000138.4:c.7204G>A , LRG_778t1:c.7204G>A	NP_000129.3:p.Asp2402Asn
NM_000138.5:c.7204G>A MANE Select	NP_000129.3:p.Asp2402Asn