Canonical Allele Identifier: CA392340918

Gene: FBN1

Linked Data

• ClinVar Variation Id: 575196
• ClinVar RCV Id: RCV000697350
• dbSNP Id: rs193922183
• MyVariant Identifiers: chr15:g.48802245A>C (hg19) ; chr15:g.48510048A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48510048A>C , CM000677.2:g.48510048A>C	GRCh38
NC_000015.9:g.48802245A>C , CM000677.1:g.48802245A>C	GRCh37
NC_000015.8:g.46589537A>C	NCBI36
NG_008805.2:g.140741T>G , LRG_778:g.140741T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.1710T>G	ENSP00000453958.2:p.Cys570Trp
ENST00000674301.2:c.1710T>G	ENSP00000501333.2:p.Cys570Trp
ENST00000684448.1:n.384T>G
ENST00000316623.10:c.1710T>G MANE Select	ENSP00000325527.5:p.Cys570Trp
ENST00000316623.9:c.1710T>G	ENSP00000325527.5:p.Cys570Trp
ENST00000537463.6:c.636+27663T>G	ENSP00000440294.2:n.636+27663T>G
NM_000138.4:c.1710T>G , LRG_778t1:c.1710T>G	NP_000129.3:p.Cys570Trp
NM_000138.5:c.1710T>G MANE Select	NP_000129.3:p.Cys570Trp