Canonical Allele Identifier: CA392341176

Gene: FBN1

Linked Data

• ClinVar Variation Id: 939999
• ClinVar RCV Id: RCV001209489
• dbSNP Id: rs397515827
• MyVariant Identifiers: chr15:g.48738944C>A (hg19) ; chr15:g.48446747C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48446747C>A , CM000677.2:g.48446747C>A	GRCh38
NC_000015.9:g.48738944C>A , CM000677.1:g.48738944C>A	GRCh37
NC_000015.8:g.46526236C>A	NCBI36
NG_008805.2:g.204042G>T , LRG_778:g.204042G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5747G>T	ENSP00000453958.2:p.Cys1916Phe
ENST00000674301.2:c.5747G>T	ENSP00000501333.2:p.Cys1916Phe
ENST00000684448.1:n.4421G>T
ENST00000316623.10:c.5747G>T MANE Select	ENSP00000325527.5:p.Cys1916Phe
ENST00000674301.1:c.746G>T	ENSP00000501333.1:p.Cys249Phe
ENST00000316623.9:c.5747G>T	ENSP00000325527.5:p.Cys1916Phe
ENST00000537463.6:c.*1510G>T	ENSP00000440294.2:n.*1510G>T
ENST00000559133.5:c.1054G>T
NM_000138.4:c.5747G>T , LRG_778t1:c.5747G>T	NP_000129.3:p.Cys1916Phe
NM_000138.5:c.5747G>T MANE Select	NP_000129.3:p.Cys1916Phe