Canonical Allele Identifier: CA057702

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1936380
• ClinVar RCV Id: RCV002658000
• dbSNP Id: rs759344061
• ExAC: 15:48720523 G / A
• gnomAD v2: 15-48720523-G-A
• gnomAD v4: 15-48428326-G-A
• MyVariant Identifiers: chr15:g.48720523G>A (hg19) ; chr15:g.48428326G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428326G>A , CM000677.2:g.48428326G>A	GRCh38
NC_000015.9:g.48720523G>A , CM000677.1:g.48720523G>A	GRCh37
NC_000015.8:g.46507815G>A	NCBI36
NG_008805.2:g.222463C>T , LRG_778:g.222463C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6997+20C>T	ENSP00000453958.2:n.6997+20C>T
ENST00000674301.2:c.*448+20C>T	ENSP00000501333.2:n.*448+20C>T
ENST00000682170.1:n.626C>T
ENST00000682767.1:n.232+20C>T
ENST00000316623.10:c.6997+20C>T MANE Select	ENSP00000325527.5:n.6997+20C>T
ENST00000674301.1:c.2101+20C>T	ENSP00000501333.1:n.2101+20C>T
ENST00000316623.9:c.6997+20C>T	ENSP00000325527.5:n.6997+20C>T
ENST00000559133.5:c.2304+20C>T
ENST00000560720.1:n.304C>T
NM_000138.4:c.6997+20C>T , LRG_778t1:c.6997+20C>T	NP_000129.3:n.6997+20C>T
NM_000138.5:c.6997+20C>T MANE Select	NP_000129.3:n.6997+20C>T