Canonical Allele Identifier: CA392336885

Gene: FBN1

Linked Data

• ClinVar Variation Id: 519755
• ClinVar RCV Id: RCV002314346 ; RCV002531820
• dbSNP Id: rs794728247
• MyVariant Identifiers: chr15:g.48729965C>A (hg19) ; chr15:g.48437768C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437768C>A , CM000677.2:g.48437768C>A	GRCh38
NC_000015.9:g.48729965C>A , CM000677.1:g.48729965C>A	GRCh37
NC_000015.8:g.46517257C>A	NCBI36
NG_008805.2:g.213021G>T , LRG_778:g.213021G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6313G>T	ENSP00000453958.2:p.Glu2105Ter
ENST00000674301.2:c.6313G>T	ENSP00000501333.2:p.Glu2105Ter
ENST00000316623.10:c.6313G>T MANE Select	ENSP00000325527.5:p.Glu2105Ter
ENST00000674301.1:c.1312G>T	ENSP00000501333.1:p.Glu438Ter
ENST00000316623.9:c.6313G>T	ENSP00000325527.5:p.Glu2105Ter
ENST00000537463.6:c.*2076G>T	ENSP00000440294.2:n.*2076G>T
ENST00000559133.5:c.1620G>T
ENST00000560820.1:n.433G>T
NM_000138.4:c.6313G>T , LRG_778t1:c.6313G>T	NP_000129.3:p.Glu2105Ter
NM_000138.5:c.6313G>T MANE Select	NP_000129.3:p.Glu2105Ter