Canonical Allele Identifier: CA058885

Gene: FBN1

Linked Data

• dbSNP Id: rs763994713
• ExAC: 15:48713905 A / G
• gnomAD v2: 15-48713905-A-G
• gnomAD v4: 15-48421708-A-G
• MyVariant Identifiers: chr15:g.48713905A>G (hg19) ; chr15:g.48713905_48713907delinsGAG (hg19) ; chr15:g.48421708A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421708A>G , CM000677.2:g.48421708A>G	GRCh38
NC_000015.9:g.48713905A>G , CM000677.1:g.48713905A>G	GRCh37
NC_000015.8:g.46501197A>G	NCBI36
NG_008805.2:g.229081T>C , LRG_778:g.229081T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*379-22T>C	ENSP00000453958.2:n.*379-22T>C
ENST00000674301.2:c.*1084-22T>C	ENSP00000501333.2:n.*1084-22T>C
ENST00000682170.1:n.1752-22T>C
ENST00000682767.1:n.868-22T>C
ENST00000316623.10:c.7571-22T>C MANE Select	ENSP00000325527.5:n.7571-22T>C
ENST00000674301.1:c.2737-22T>C	ENSP00000501333.1:n.2737-22T>C
ENST00000316623.9:c.7571-22T>C	ENSP00000325527.5:n.7571-22T>C
ENST00000559133.5:c.2940-22T>C
NM_000138.4:c.7571-22T>C , LRG_778t1:c.7571-22T>C	NP_000129.3:n.7571-22T>C
NM_000138.5:c.7571-22T>C MANE Select	NP_000129.3:n.7571-22T>C