Canonical Allele Identifier: CA16614630

Gene: FBN1

Linked Data

• ClinVar Variation Id: 406303
• ClinVar RCV Id: RCV001377771
• dbSNP Id: rs1060501044
• MyVariant Identifiers: chr15:g.48730069C>A (hg19) ; chr15:g.48437872C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437872C>A , CM000677.2:g.48437872C>A	GRCh38
NC_000015.9:g.48730069C>A , CM000677.1:g.48730069C>A	GRCh37
NC_000015.8:g.46517361C>A	NCBI36
NG_008805.2:g.212917G>T , LRG_778:g.212917G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6209G>T	ENSP00000453958.2:p.Cys2070Phe
ENST00000674301.2:c.6209G>T	ENSP00000501333.2:p.Cys2070Phe
ENST00000316623.10:c.6209G>T MANE Select	ENSP00000325527.5:p.Cys2070Phe
ENST00000674301.1:c.1208G>T	ENSP00000501333.1:p.Cys403Phe
ENST00000316623.9:c.6209G>T	ENSP00000325527.5:p.Cys2070Phe
ENST00000537463.6:c.*1972G>T	ENSP00000440294.2:n.*1972G>T
ENST00000559133.5:c.1516G>T
ENST00000560820.1:n.329G>T
NM_000138.4:c.6209G>T , LRG_778t1:c.6209G>T	NP_000129.3:p.Cys2070Phe
NM_000138.5:c.6209G>T MANE Select	NP_000129.3:p.Cys2070Phe