Canonical Allele Identifier: CA059980

Gene: FBN1

Linked Data

• ClinVar Variation Id: 3031185
• ClinVar RCV Id: RCV004532012
• dbSNP Id: rs757167650
• ExAC: 15:48703433 G / A
• gnomAD v2: 15-48703433-G-A
• gnomAD v4: 15-48411236-G-A
• MyVariant Identifiers: chr15:g.48703433G>A (hg19) ; chr15:g.48411236G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411236G>A , CM000677.2:g.48411236G>A	GRCh38
NC_000015.9:g.48703433G>A , CM000677.1:g.48703433G>A	GRCh37
NC_000015.8:g.46490725G>A	NCBI36
NG_008805.2:g.239553C>T , LRG_778:g.239553C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1178C>T	ENSP00000453958.2:n.*1178C>T
ENST00000674301.2:c.*1883C>T	ENSP00000501333.2:n.*1883C>T
ENST00000682158.1:n.1751C>T
ENST00000682170.1:n.2551C>T
ENST00000682767.1:n.1667C>T
ENST00000316623.10:c.8370C>T MANE Select	ENSP00000325527.5:p.His2790=
ENST00000674301.1:c.3536C>T	ENSP00000501333.1:n.3536C>T
ENST00000316623.9:c.8370C>T	ENSP00000325527.5:p.His2790=
ENST00000559133.5:c.3739C>T
ENST00000561429.1:n.625C>T
NM_000138.4:c.8370C>T , LRG_778t1:c.8370C>T	NP_000129.3:p.His2790=
NM_000138.5:c.8370C>T MANE Select	NP_000129.3:p.His2790=