Canonical Allele Identifier: CA713390784

Gene: FBN1

Linked Data

• dbSNP Id: rs1356817773
• gnomAD v3: 15-48427490-A-G
• gnomAD v4: 15-48427490-A-G
• MyVariant Identifiers: chr15:g.48719687A>G (hg19) ; chr15:g.48427490A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48427490A>G , CM000677.2:g.48427490A>G	GRCh38
NC_000015.9:g.48719687A>G , CM000677.1:g.48719687A>G	GRCh37
NC_000015.8:g.46506979A>G	NCBI36
NG_008805.2:g.223299T>C , LRG_778:g.223299T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*12+77T>C	ENSP00000453958.2:n.*12+77T>C
ENST00000674301.2:c.*717+77T>C	ENSP00000501333.2:n.*717+77T>C
ENST00000682170.1:n.1385+77T>C
ENST00000682767.1:n.501+77T>C
ENST00000316623.10:c.7204+77T>C MANE Select	ENSP00000325527.5:n.7204+77T>C
ENST00000674301.1:c.2370+77T>C	ENSP00000501333.1:n.2370+77T>C
ENST00000316623.9:c.7204+77T>C	ENSP00000325527.5:n.7204+77T>C
ENST00000559133.5:c.2573+77T>C
NM_000138.4:c.7204+77T>C , LRG_778t1:c.7204+77T>C	NP_000129.3:n.7204+77T>C
NM_000138.5:c.7204+77T>C MANE Select	NP_000129.3:n.7204+77T>C