Canonical Allele Identifier: CA392339930

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549316
• ClinVar RCV Id: RCV000663831 ; RCV002352081
• dbSNP Id: rs111239111
• MyVariant Identifiers: chr15:g.48737578C>T (hg19) ; chr15:g.48445381C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445381C>T , CM000677.2:g.48445381C>T	GRCh38
NC_000015.9:g.48737578C>T , CM000677.1:g.48737578C>T	GRCh37
NC_000015.8:g.46524870C>T	NCBI36
NG_008805.2:g.205408G>A , LRG_778:g.205408G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.5912G>A	ENSP00000453958.2:p.Cys1971Tyr
ENST00000674301.2:c.5912G>A	ENSP00000501333.2:p.Cys1971Tyr
ENST00000684448.1:n.4586G>A
ENST00000316623.10:c.5912G>A MANE Select	ENSP00000325527.5:p.Cys1971Tyr
ENST00000674301.1:c.911G>A	ENSP00000501333.1:p.Cys304Tyr
ENST00000316623.9:c.5912G>A	ENSP00000325527.5:p.Cys1971Tyr
ENST00000537463.6:c.*1675G>A	ENSP00000440294.2:n.*1675G>A
ENST00000559133.5:c.1219G>A
ENST00000560820.1:n.32G>A
NM_000138.4:c.5912G>A , LRG_778t1:c.5912G>A	NP_000129.3:p.Cys1971Tyr
NM_000138.5:c.5912G>A MANE Select	NP_000129.3:p.Cys1971Tyr