Canonical Allele Identifier: CA490090104

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1081595
• ClinVar RCV Id: RCV001397649 ; RCV003389870
• dbSNP Id: rs200062771
• MyVariant Identifiers: chr15:g.48829899T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48537702T>A , CM000677.2:g.48537702T>A	GRCh38
NC_000015.9:g.48829899T>A , CM000677.1:g.48829899T>A	GRCh37
NC_000015.8:g.46617191T>A	NCBI36
NG_008805.2:g.113087A>T , LRG_778:g.113087A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.645A>T	ENSP00000453958.2:p.Arg215=
ENST00000674301.2:c.645A>T	ENSP00000501333.2:p.Arg215=
ENST00000316623.10:c.645A>T MANE Select	ENSP00000325527.5:p.Arg215=
ENST00000316623.9:c.645A>T	ENSP00000325527.5:p.Arg215=
ENST00000537463.6:c.636+9A>T	ENSP00000440294.2:n.636+9A>T
NM_000138.4:c.645A>T , LRG_778t1:c.645A>T	NP_000129.3:p.Arg215=
NM_000138.5:c.645A>T MANE Select	NP_000129.3:p.Arg215=