Canonical Allele Identifier: CA060073

Gene: FBN1

Linked Data

• dbSNP Id: rs770097888
• ExAC: 15:48703328 T / C
• gnomAD v2: 15-48703328-T-C
• gnomAD v4: 15-48411131-T-C
• MyVariant Identifiers: chr15:g.48703328T>C (hg19) ; chr15:g.48411131T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411131T>C , CM000677.2:g.48411131T>C	GRCh38
NC_000015.9:g.48703328T>C , CM000677.1:g.48703328T>C	GRCh37
NC_000015.8:g.46490620T>C	NCBI36
NG_008805.2:g.239658A>G , LRG_778:g.239658A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1283A>G	ENSP00000453958.2:n.*1283A>G
ENST00000674301.2:c.*1988A>G	ENSP00000501333.2:n.*1988A>G
ENST00000682158.1:n.1856A>G
ENST00000682170.1:n.2656A>G
ENST00000682767.1:n.1772A>G
ENST00000316623.10:c.8475A>G MANE Select	ENSP00000325527.5:p.Gly2825=
ENST00000674301.1:c.3641A>G	ENSP00000501333.1:n.3641A>G
ENST00000316623.9:c.8475A>G	ENSP00000325527.5:p.Gly2825=
ENST00000559133.5:c.3844A>G
NM_000138.4:c.8475A>G , LRG_778t1:c.8475A>G	NP_000129.3:p.Gly2825=
NM_000138.5:c.8475A>G MANE Select	NP_000129.3:p.Gly2825=