Canonical Allele Identifier: CA058997

Gene: FBN1

Linked Data

• ClinVar Variation Id: 929147
• ClinVar RCV Id: RCV002069251
• dbSNP Id: rs753819758
• ExAC: 15:48713737 G / A
• gnomAD v2: 15-48713737-G-A
• gnomAD v3: 15-48421540-G-A
• gnomAD v4: 15-48421540-G-A
• MyVariant Identifiers: chr15:g.48713737G>A (hg19) ; chr15:g.48421540G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421540G>A , CM000677.2:g.48421540G>A	GRCh38
NC_000015.9:g.48713737G>A , CM000677.1:g.48713737G>A	GRCh37
NC_000015.8:g.46501029G>A	NCBI36
NG_008805.2:g.229249C>T , LRG_778:g.229249C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*507+18C>T	ENSP00000453958.2:n.*507+18C>T
ENST00000674301.2:c.*1212+18C>T	ENSP00000501333.2:n.*1212+18C>T
ENST00000682170.1:n.1880+18C>T
ENST00000682767.1:n.996+18C>T
ENST00000316623.10:c.7699+18C>T MANE Select	ENSP00000325527.5:n.7699+18C>T
ENST00000674301.1:c.2865+18C>T	ENSP00000501333.1:n.2865+18C>T
ENST00000316623.9:c.7699+18C>T	ENSP00000325527.5:n.7699+18C>T
ENST00000559133.5:c.3068+18C>T
NM_000138.4:c.7699+18C>T , LRG_778t1:c.7699+18C>T	NP_000129.3:n.7699+18C>T
NM_000138.5:c.7699+18C>T MANE Select	NP_000129.3:n.7699+18C>T