Canonical Allele Identifier: CA059497

Gene: FBN1

Linked Data

• dbSNP Id: rs766746069
• ExAC: 15:48707694 A / G
• gnomAD v2: 15-48707694-A-G
• gnomAD v4: 15-48415497-A-G
• MyVariant Identifiers: chr15:g.48707694A>G (hg19) ; chr15:g.48415497A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415497A>G , CM000677.2:g.48415497A>G	GRCh38
NC_000015.9:g.48707694A>G , CM000677.1:g.48707694A>G	GRCh37
NC_000015.8:g.46494986A>G	NCBI36
NG_008805.2:g.235292T>C , LRG_778:g.235292T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*859+39T>C	ENSP00000453958.2:n.*859+39T>C
ENST00000674301.2:c.*1564+39T>C	ENSP00000501333.2:n.*1564+39T>C
ENST00000682158.1:n.1432+39T>C
ENST00000682170.1:n.2232+39T>C
ENST00000682767.1:n.1348+39T>C
ENST00000316623.10:c.8051+39T>C MANE Select	ENSP00000325527.5:n.8051+39T>C
ENST00000674301.1:c.3217+39T>C	ENSP00000501333.1:n.3217+39T>C
ENST00000316623.9:c.8051+39T>C	ENSP00000325527.5:n.8051+39T>C
ENST00000559133.5:c.3420+39T>C
ENST00000561429.1:n.306+39T>C
NM_000138.4:c.8051+39T>C , LRG_778t1:c.8051+39T>C	NP_000129.3:n.8051+39T>C
NM_000138.5:c.8051+39T>C MANE Select	NP_000129.3:n.8051+39T>C