Canonical Allele Identifier: CA392325734

Gene: FBN1

Linked Data

• ClinVar Variation Id: 926099
• ClinVar RCV Id: RCV001188488
• dbSNP Id: rs397515854
• gnomAD v4: 15-48421651-C-A
• MyVariant Identifiers: chr15:g.48713848C>A (hg19) ; chr15:g.48421651C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421651C>A , CM000677.2:g.48421651C>A	GRCh38
NC_000015.9:g.48713848C>A , CM000677.1:g.48713848C>A	GRCh37
NC_000015.8:g.46501140C>A	NCBI36
NG_008805.2:g.229138G>T , LRG_778:g.229138G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*414G>T	ENSP00000453958.2:n.*414G>T
ENST00000674301.2:c.*1119G>T	ENSP00000501333.2:n.*1119G>T
ENST00000682170.1:n.1787G>T
ENST00000682767.1:n.903G>T
ENST00000316623.10:c.7606G>T MANE Select	ENSP00000325527.5:p.Gly2536Trp
ENST00000674301.1:c.2772G>T	ENSP00000501333.1:n.2772G>T
ENST00000316623.9:c.7606G>T	ENSP00000325527.5:p.Gly2536Trp
ENST00000559133.5:c.2975G>T
NM_000138.4:c.7606G>T , LRG_778t1:c.7606G>T	NP_000129.3:p.Gly2536Trp
NM_000138.5:c.7606G>T MANE Select	NP_000129.3:p.Gly2536Trp