Canonical Allele Identifier: CA392341002

Gene: FBN1

Linked Data

• ClinVar Variation Id: 547333
• ClinVar RCV Id: RCV000659557 ; RCV002352071
• dbSNP Id: rs1555395820
• MyVariant Identifiers: chr15:g.48738903C>T (hg19) ; chr15:g.48446706C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48446706C>T , CM000677.2:g.48446706C>T	GRCh38
NC_000015.9:g.48738903C>T , CM000677.1:g.48738903C>T	GRCh37
NC_000015.8:g.46526195C>T	NCBI36
NG_008805.2:g.204083G>A , LRG_778:g.204083G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5788G>A	ENSP00000453958.2:p.Asp1930Asn
ENST00000674301.2:c.5788G>A	ENSP00000501333.2:p.Asp1930Asn
ENST00000684448.1:n.4462G>A
ENST00000316623.10:c.5788G>A MANE Select	ENSP00000325527.5:p.Asp1930Asn
ENST00000674301.1:c.787G>A	ENSP00000501333.1:p.Asp263Asn
ENST00000316623.9:c.5788G>A	ENSP00000325527.5:p.Asp1930Asn
ENST00000537463.6:c.*1551G>A	ENSP00000440294.2:n.*1551G>A
ENST00000559133.5:c.1095G>A
NM_000138.4:c.5788G>A , LRG_778t1:c.5788G>A	NP_000129.3:p.Asp1930Asn
NM_000138.5:c.5788G>A MANE Select	NP_000129.3:p.Asp1930Asn