Canonical Allele Identifier: CA713387499

Gene: FBN1

Linked Data

• dbSNP Id: rs1251608592
• gnomAD v3: 15-48422345-A-G
• gnomAD v4: 15-48422345-A-G
• MyVariant Identifiers: chr15:g.48714542A>G (hg19) ; chr15:g.48422345A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422345A>G , CM000677.2:g.48422345A>G	GRCh38
NC_000015.9:g.48714542A>G , CM000677.1:g.48714542A>G	GRCh37
NC_000015.8:g.46501834A>G	NCBI36
NG_008805.2:g.228444T>C , LRG_778:g.228444T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*262-277T>C	ENSP00000453958.2:n.*262-277T>C
ENST00000674301.2:c.*967-277T>C	ENSP00000501333.2:n.*967-277T>C
ENST00000682170.1:n.1635-277T>C
ENST00000682767.1:n.751-277T>C
ENST00000316623.10:c.7454-277T>C MANE Select	ENSP00000325527.5:n.7454-277T>C
ENST00000674301.1:c.2620-277T>C	ENSP00000501333.1:n.2620-277T>C
ENST00000316623.9:c.7454-277T>C	ENSP00000325527.5:n.7454-277T>C
ENST00000559133.5:c.2823-277T>C
NM_000138.4:c.7454-277T>C , LRG_778t1:c.7454-277T>C	NP_000129.3:n.7454-277T>C
NM_000138.5:c.7454-277T>C MANE Select	NP_000129.3:n.7454-277T>C