Canonical Allele Identifier: CA059510

Gene: FBN1

Linked Data

• dbSNP Id: rs765236517
• ExAC: 15:48707686 T / G
• gnomAD v2: 15-48707686-T-G
• gnomAD v3: 15-48415489-T-G
• gnomAD v4: 15-48415489-T-G
• MyVariant Identifiers: chr15:g.48707686T>G (hg19) ; chr15:g.48415489T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415489T>G , CM000677.2:g.48415489T>G	GRCh38
NC_000015.9:g.48707686T>G , CM000677.1:g.48707686T>G	GRCh37
NC_000015.8:g.46494978T>G	NCBI36
NG_008805.2:g.235300A>C , LRG_778:g.235300A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*859+47A>C	ENSP00000453958.2:n.*859+47A>C
ENST00000674301.2:c.*1564+47A>C	ENSP00000501333.2:n.*1564+47A>C
ENST00000682158.1:n.1432+47A>C
ENST00000682170.1:n.2232+47A>C
ENST00000682767.1:n.1348+47A>C
ENST00000316623.10:c.8051+47A>C MANE Select	ENSP00000325527.5:n.8051+47A>C
ENST00000674301.1:c.3217+47A>C	ENSP00000501333.1:n.3217+47A>C
ENST00000316623.9:c.8051+47A>C	ENSP00000325527.5:n.8051+47A>C
ENST00000559133.5:c.3420+47A>C
ENST00000561429.1:n.306+47A>C
NM_000138.4:c.8051+47A>C , LRG_778t1:c.8051+47A>C	NP_000129.3:n.8051+47A>C
NM_000138.5:c.8051+47A>C MANE Select	NP_000129.3:n.8051+47A>C