Canonical Allele Identifier: CA490024283

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2950104
• ClinVar RCV Id: RCV003807462
• MyVariant Identifiers: chr15:g.48796090C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48503893C>T , CM000677.2:g.48503893C>T	GRCh38
NC_000015.9:g.48796090C>T , CM000677.1:g.48796090C>T	GRCh37
NC_000015.8:g.46583382C>T	NCBI36
NG_008805.2:g.146896G>A , LRG_778:g.146896G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2007G>A	ENSP00000453958.2:p.Gln669=
ENST00000674301.2:c.2007G>A	ENSP00000501333.2:p.Gln669=
ENST00000684448.1:n.681G>A
ENST00000316623.10:c.2007G>A MANE Select	ENSP00000325527.5:p.Gln669=
ENST00000316623.9:c.2007G>A	ENSP00000325527.5:p.Gln669=
ENST00000537463.6:c.637-29243G>A	ENSP00000440294.2:n.637-29243G>A
NM_000138.4:c.2007G>A , LRG_778t1:c.2007G>A	NP_000129.3:p.Gln669=
NM_000138.5:c.2007G>A MANE Select	NP_000129.3:p.Gln669=