Canonical Allele Identifier: CA392339799

Gene: FBN1

Linked Data

• ClinVar Variation Id: 519772
• ClinVar RCV Id: RCV002314360 ; RCV003767801
• dbSNP Id: rs1555395652
• MyVariant Identifiers: chr15:g.48736808A>C (hg19) ; chr15:g.48444611A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48444611A>C , CM000677.2:g.48444611A>C	GRCh38
NC_000015.9:g.48736808A>C , CM000677.1:g.48736808A>C	GRCh37
NC_000015.8:g.46524100A>C	NCBI36
NG_008805.2:g.206178T>G , LRG_778:g.206178T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5967T>G	ENSP00000453958.2:p.Cys1989Trp
ENST00000674301.2:c.5967T>G	ENSP00000501333.2:p.Cys1989Trp
ENST00000684448.1:n.4641T>G
ENST00000316623.10:c.5967T>G MANE Select	ENSP00000325527.5:p.Cys1989Trp
ENST00000674301.1:c.966T>G	ENSP00000501333.1:p.Cys322Trp
ENST00000316623.9:c.5967T>G	ENSP00000325527.5:p.Cys1989Trp
ENST00000537463.6:c.*1730T>G	ENSP00000440294.2:n.*1730T>G
ENST00000559133.5:c.1274T>G
ENST00000560820.1:n.87T>G
NM_000138.4:c.5967T>G , LRG_778t1:c.5967T>G	NP_000129.3:p.Cys1989Trp
NM_000138.5:c.5967T>G MANE Select	NP_000129.3:p.Cys1989Trp