Canonical Allele Identifier: CA059484

Gene: FBN1

Linked Data

• ClinVar Variation Id: 932197
• ClinVar RCV Id: RCV001199903 ; RCV002561070
• dbSNP Id: rs781718760
• ExAC: 15:48707713 C / A
• gnomAD v2: 15-48707713-C-A
• gnomAD v3: 15-48415516-C-A
• gnomAD v4: 15-48415516-C-A
• MyVariant Identifiers: chr15:g.48707713C>A (hg19) ; chr15:g.48415516C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415516C>A , CM000677.2:g.48415516C>A	GRCh38
NC_000015.9:g.48707713C>A , CM000677.1:g.48707713C>A	GRCh37
NC_000015.8:g.46495005C>A	NCBI36
NG_008805.2:g.235273G>T , LRG_778:g.235273G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*859+20G>T	ENSP00000453958.2:n.*859+20G>T
ENST00000674301.2:c.*1564+20G>T	ENSP00000501333.2:n.*1564+20G>T
ENST00000682158.1:n.1432+20G>T
ENST00000682170.1:n.2232+20G>T
ENST00000682767.1:n.1348+20G>T
ENST00000316623.10:c.8051+20G>T MANE Select	ENSP00000325527.5:n.8051+20G>T
ENST00000674301.1:c.3217+20G>T	ENSP00000501333.1:n.3217+20G>T
ENST00000316623.9:c.8051+20G>T	ENSP00000325527.5:n.8051+20G>T
ENST00000559133.5:c.3420+20G>T
ENST00000561429.1:n.306+20G>T
NM_000138.4:c.8051+20G>T , LRG_778t1:c.8051+20G>T	NP_000129.3:n.8051+20G>T
NM_000138.5:c.8051+20G>T MANE Select	NP_000129.3:n.8051+20G>T