Canonical Allele Identifier: CA058155

Gene: FBN1

Linked Data

• ClinVar Variation Id: 316389
• ClinVar RCV Id: RCV000280636 ; RCV000298208 ; RCV000302539 ; RCV000337778 ; RCV000391098 ; RCV000386712 ; RCV000405430 ; RCV001246310 ; RCV004537783
• dbSNP Id: rs757264206
• ExAC: 15:48829821 C / T
• gnomAD v2: 15-48829821-C-T
• gnomAD v4: 15-48537624-C-T
• MyVariant Identifiers: chr15:g.48829821C>T (hg19) ; chr15:g.48537624C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48537624C>T , CM000677.2:g.48537624C>T	GRCh38
NC_000015.9:g.48829821C>T , CM000677.1:g.48829821C>T	GRCh37
NC_000015.8:g.46617113C>T	NCBI36
NG_008805.2:g.113165G>A , LRG_778:g.113165G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.723G>A	ENSP00000453958.2:p.Thr241=
ENST00000674301.2:c.723G>A	ENSP00000501333.2:p.Thr241=
ENST00000316623.10:c.723G>A MANE Select	ENSP00000325527.5:p.Thr241=
ENST00000316623.9:c.723G>A	ENSP00000325527.5:p.Thr241=
ENST00000537463.6:c.636+87G>A	ENSP00000440294.2:n.636+87G>A
NM_000138.4:c.723G>A , LRG_778t1:c.723G>A	NP_000129.3:p.Thr241=
NM_000138.5:c.723G>A MANE Select	NP_000129.3:p.Thr241=