Canonical Allele Identifier: CA392325255

Gene: FBN1

Linked Data

• ClinVar Variation Id: 863722
• ClinVar RCV Id: RCV001070752 ; RCV003886480
• dbSNP Id: rs2043515038
• MyVariant Identifiers: chr15:g.48779364C>T (hg19) ; chr15:g.48487167C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487167C>T , CM000677.2:g.48487167C>T	GRCh38
NC_000015.9:g.48779364C>T , CM000677.1:g.48779364C>T	GRCh37
NC_000015.8:g.46566656C>T	NCBI36
NG_008805.2:g.163622G>A , LRG_778:g.163622G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.3497G>A	ENSP00000453958.2:p.Cys1166Tyr
ENST00000674301.2:c.3497G>A	ENSP00000501333.2:p.Cys1166Tyr
ENST00000684448.1:n.2171G>A
ENST00000316623.10:c.3497G>A MANE Select	ENSP00000325527.5:p.Cys1166Tyr
ENST00000316623.9:c.3497G>A	ENSP00000325527.5:p.Cys1166Tyr
ENST00000537463.6:c.637-12517G>A	ENSP00000440294.2:n.637-12517G>A
NM_000138.4:c.3497G>A , LRG_778t1:c.3497G>A	NP_000129.3:p.Cys1166Tyr
NM_000138.5:c.3497G>A MANE Select	NP_000129.3:p.Cys1166Tyr