Canonical Allele Identifier: CA490090231

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1796584
• ClinVar RCV Id: RCV002435115
• MyVariant Identifiers: chr15:g.48902989A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48610792A>G , CM000677.2:g.48610792A>G	GRCh38
NC_000015.9:g.48902989A>G , CM000677.1:g.48902989A>G	GRCh37
NC_000015.8:g.46690281A>G	NCBI36
NG_008805.2:g.39997T>C , LRG_778:g.39997T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.282T>C	ENSP00000453958.2:p.Cys94=
ENST00000674301.2:c.282T>C	ENSP00000501333.2:p.Cys94=
ENST00000316623.10:c.282T>C MANE Select	ENSP00000325527.5:p.Cys94=
ENST00000316623.9:c.282T>C	ENSP00000325527.5:p.Cys94=
ENST00000537463.6:c.282T>C	ENSP00000440294.2:p.Cys94=
NM_000138.4:c.282T>C , LRG_778t1:c.282T>C	NP_000129.3:p.Cys94=
NM_000138.5:c.282T>C MANE Select	NP_000129.3:p.Cys94=