Canonical Allele Identifier: CA059520

Gene: FBN1

Linked Data

• ClinVar Variation Id: 457268
• ClinVar RCV Id: RCV000557828 ; RCV001176127 ; RCV002245998 ; RCV004525961
• dbSNP Id: rs767384075
• ExAC: 15:48707728 C / T
• gnomAD v2: 15-48707728-C-T
• gnomAD v3: 15-48415531-C-T
• gnomAD v4: 15-48415531-C-T
• MyVariant Identifiers: chr15:g.48707728C>T (hg19) ; chr15:g.48415531C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415531C>T , CM000677.2:g.48415531C>T	GRCh38
NC_000015.9:g.48707728C>T , CM000677.1:g.48707728C>T	GRCh37
NC_000015.8:g.46495020C>T	NCBI36
NG_008805.2:g.235258G>A , LRG_778:g.235258G>A

Transcript Alleles

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